Assistant Professor, Maternal-Fetal Medicine, Department of Obstetrics and Gynecology: the University of California, Los Angeles, Los Angeles, CA.

Yalda Afshar, MD, PhD

Congenital heart disease (CHD) is the most common major birth defect and represents the leading cause of infant death from a congenital anomaly.

 In high-resource settings, CHD accounts for roughly 4% of all neonatal deaths and 30% to 50% of deaths related to congenital anomalies.

 The incidence of CHD among live births is 6 to 12 per 1000 and is likely an underestimate given both spontaneous and elective terminations with CHD.

 Identified risk factors for fetal CHD are broadly placed into 3 categories: maternal factors, fetal factors, and familial risk factors. Considering these risk factors, patients with increased risk should be considered for fetal echocardiography.

 Here, we review the tenets of fetal echocardiography, including the risks, benefits, and the indications for appropriate referral

FIGURE 1. Fetal echocardiogram imaging. (Image provided by Afshar and Sklansky)

Unlike fetal cardiac screening (ie, a detailed anatomical ultrasound and fetal anomaly screen), fetal echocardiography should be reserved for high-risk populations. Pregnancies at higher than population-based risk for CHD require a comprehensive evaluation of the fetal heart by fetal echocardiography. There are a myriad of national and international guidelines that standardize the requirements for fetal echocardiography. These guidelines are collated by multiple organizations, including the American Institute of Ultrasound in Medicine, the International Society of Ultrasound in Obstetrics and Gynecology, the American Heart Association, and the Association for European Pediatric Cardiology, among others.

 The fetal echocardiogram should include a detailed assessment of fetal situs, cardiac axis, cardiac chambers, great vessels, atrioventricular and semilunar valves, systemic and pulmonary venous connects, cardiac function, and rhythm. The presence of clear guidelines by societies helps standardize the approach to evaluation of the fetal heart.

A fetal echocardiogram should generally be performed between 18 and
22 weeks’ gestation; however, the exact timing is determined by a multitude of other factors including the timing of risk factor identification and the screening diagnosis that warrants the exam, as well as a variety of relevant resources, including the availability of first trimester echocardiography, financial and logistic considerations, and appointment availability. Frequency and follow-up of echocardiography should be personalized and depend on practice location, available resources, and natural history of disease to optimize postnatal delivery planning. Delivery planning echocardiograms are triaged based on disease progression, modifications of postnatal coordination, and limitations with initial imaging.

Risks and benefits of prenatal screening and diagnosis of CHD

The benefits of prenatal screening revolve around parental and postnatal preparation with a subsequent improvement in neonatal morbidity and mortality. Parental counseling and preparation should not be underestimated. Even if the exact lesion or postnatal plans are not finalized until birth with the postnatal echocardiogram and clinical assessment of the neonate, prenatal detection allows the family to obtain prognostic information prior to birth and to make informed decisions on the pregnancy including expectant management, in utero interventions, and terminations. More so, it allows the family to optimize delivery planning, including the location, timing, and mode of birth to optimize both maternal and neonatal outcomes.

Prenatal diagnosis of CHD improves neonatal survival.12 Neonatal morbidity is improved by optimizing and identifying the patients who would require immediate intervention at birth, including prostaglandin administration, transcatheter intervention, and possible pacing.

Opportunities for fetal treatment, specifically transplacental medical therapy for some fetal arrythmias, are obviously beneficial with earlier diagnosis. Invasive prenatal interventions, such as for severe valvular abnormalities and hypoplastic left heart syndrome, remain mostly under research protocols.

The risks related to performing fetal echocardiography, particularly in the absence of cardiac findings on routine screening, include the potential for familial and parental anxiety, false-positive diagnosis, additional unnecessary testing and interventions, and the undetermined cost-effectiveness and a priori determined risk level. More so, most critical cardiac lesions are not missed in a detailed anatomical evaluation.

Figure 2. Risk factors for fetal heart disease

are positioned into 3 risk categories: familial, maternal, or fetal conditions.5,6 It remains a topic of debate what percentage over the baseline prevalence (0.3%-1.2%) necessitates additional screening by fetal echocardiogram. Though we make recommendations based on the evidence, this decision must be applicable to the community being served and include an analysis of the benefit from fetal echocardiography over screening and the sophistication of ultrasound screening (vs fetal echocardiography) at the center that the pregnant patient receives care.

Indications for Fetal Echocardiogram Continued

In many areas, the No. 2 reason that most pregnant people are sent for a prenatal fetal echocardiogram is for a suspicion of structural heart disease seen on an obstetrical ultrasound, which results in a diagnosis in around 50% of cases. Risk factors that warrant a fetal echocardiogram are summarized in 

Maternal factors that warrant a fetal echocardiogram

Both pregestational diabetes and phenylketonuria are metabolic conditions that increase the risk of fetal embryopathy and abnormal cardiac development, specifically related to teratogenicity targeted toward cardiac development. Pregestational diabetes affects nearly 2% of all pregnancies. Pregestational diabetes is associated with a 5-fold increase (3%-5%) in CHD and can affect the fetal heart in several ways.14,15 First, the risk of fetal congenital heart disease is markedly increased as glucose works as a teratogen in cardiac development; second, fetal hypertrophic cardiomyopathy may occur even with good glycemic control; and third, studies have shown impaired function of the heart of some infants and fetuses of diabetic pregnancies, which can occur with and without septal hypertrophy. The relative risk (RR) of fetal CHD varies based on the specific cardiac defect, but the RR for single ventricle defects is as high as 18.24.

All pregestational diabetic pregnancies are associated with an increased risk of CHD, regardless of hemoglobin A1c (HbA1c). In contrast, with pregestational diabetes, third trimester insulin resistance of gestational diabetes does not increase the risk of CHD. Importantly, however, poorly controlled gestational diabetes can be associated with fetal ventricular hypertrophy and the degree of hypertrophy is related to glycemic control.

Maternal phenylketonuria (PKU) presents some risks to the fetus similar to pregestational diabetes. Untreated maternal PKU is associated with adverse pregnancy outcomes, which include CHD, neurodevelopmental delay, microcephaly, and fetal growth restriction. Elevated maternal phenylalanine (> 15 mg/dL) is associated with a 10- to 15-fold increased risk of CHD. There is a startling 12% risk of fetal CHD if diet control of PKU is not achieved by 10 weeks with no increased risk if phenylalanine levels less than 6 mg/dL before conception. Both maternal diabetes and PKU present examples where prepregnancy optimization of metabolic conditions can improve pregnancy outcomes including risk of fetal CHD.

The association and fetal risk of congenital heart block (CHB) with maternal lupus and Sjögren’s syndrome is well known, and the incidence is based on prior history of an affected child and SSA-(anti-Ro) or SSB-(anti-La) positive antibodies, independent of connective tissue disease status. Neonates that have CHB have a 20% mortality rate and 65% of the neonates receive permanent pacing.

 While the incidence of fetal CHB with a prior affected child and SSA- or SSA/SSB-positive antibodies is 11% to 20%, SSA-or SSA/SSB-positive antibodies with no prior affected children is associated with a 1% to 5% risk, and positivity with hypothyroidism is associated with a 9-fold increase in risk compared with positive antibodies alone. Higher SSA values (> 50 U/mL) correlate with increased fetal risk and that 10% to 15% of SSA-exposed fetuses may also or alternatively develop additional complications. The role of SSB antibodies (alone) in CHB is unclear, and currently no high-level evidence exists to recommend for CHB if SSB positive and SSA negative. In many practice settings, SSA or SSB positivity is treated the same. SSA/SSB IgG antibodies do cross the placenta and the current mechanistic hypothesis, though unproven, is thought to be related to an activated inflammatory processing leading to scarring, fibrosis and, permanent myocardial and conducting system damage. CHB is most often identified after 18 weeks’ but before 28 weeks’ gestation, so monitoring for CHB are via mechanical PR intervals through M-mode or Doppler during this interval is recommended. The elephant in the room (for monitoring for CHB) remains standing. No current data, including steroids, slow or reverse CHB after diagnosis. Current trials are ongoing, including the use of intravenous immunoglobulins and other surveillance protocols.

We recommend if maternal autoantibodies (SSA or SSA/SSB) are identified, a fetal echocardiogram should be performed and serial ultrasound evaluation of growth and assessment of PR-intervals could be offered and coordinated, though this remains controversial considering a lack of intervention. Unaffected neonates should receive a postnatal electrocardiogram and if a neonate has CHB, maternal testing for SSA and SSA/SSB auto-antibodies should be done.

Medication exposure that warrants a fetal echocardiogram

The Table demonstrates a summary of medication exposure that would increase risk of CHD to levels that warrant at least consideration of a fetal echocardiogram. Very few medication exposures get to this limit. Notably, most of these recommendations come from retrospective or registry data fraught with bias and our recommendations are based on the available evidence. Maternal benefit of medication exposure must always be balanced against a theoretical risk of transplacental passage and fetal risk. Retinoic acid exposure and first trimester angiotensin-converting enzyme (ACE) inhibitor use warrant a fetal echocardiogram. For retinoic acid, cardiac malformations, specifically, conotruncal defects and aortic arch anomalies have been reported in 8% to 20% of exposed fetuses.

First-trimester ACE inhibitor exposure is associated with increased risk for CHD where 2.9% of exposed neonates (vs 0.78% of unexposed neonates) have CHD with a RR of 3.72.20,21 Most reported CHDs in this population are lesions not usually detected prenatally: atrial septal defects (ASDs) and patient ductus arteriosus.

At this time, we do not recommend routine fetal echocardiography for pregnant people with selective serotonin reuptake inhibitor (SSRI) use as there is no increased risk of CHD associated with the use of most SSRIs. The only exception is paroxetine. First-trimester paroxetine exposure is associated with a small increased risk of CHD (odds ratio [OR], 1.72; 95% CI, 1.22-2.42). A study of 10,000 infants with birth defects demonstrated that SSRI use was not associated with increased in risk of CHD (OR, 1.2; 95% CI, 0.9-1.6), though there was a possible increased paroxetine exposure among infants with outflow tract abnormalities (OR, 3.3; 95% CI,1.3-8.8).

Antiseizure medication, specifically carbamazepine, is no longer considered to increase the risk of fetal CHD above baseline. The mood stabilizer lithium also was historically believed to significantly increase the risk of cardiac malformations. Registry studies reported the risk up to 8% in offspring exposure to lithium; however, studies suggest the risk is not as high as initially thought with a RR of 1.1.

First-trimester warfarin use greater than 5 mg is teratogenic; however, there is no increased risk of CHD despite the increased risk of other defects.

 Nonsteroidal anti-inflammatory use is common and there is ultrasound evidence (without clinical correlate) of ductal constriction in indomethacin-exposed late-trimester pregnancies.

Febrile maternal illness has been associated with increased risk of CHD (OR, 1.8; 95% CI, 1.4-2.4), but not significantly above baseline population risk. As such, the only indication during an infection for a fetal echocardiogram is in the setting of an infection with pericardial effusion/hydrops.

 Otherwise, first-trimester infection with rubella should also prompt a fetal echocardiogram. Congenital rubella syndrome from maternal rubella infection is associated with CHD (pulmonary artery stenosis)

The risk of congenital defects is limited in the first 16 weeks (Table). Exposure to or seroconversion from other viral illnesses in pregnancy, including SARS-CoV-2, is not as likely to be associated with cardiac abnormalities. However, fetal pericarditis or myocarditis may be seen in parvovirus, coxsackievirus, adenovirus, or cytomegalovirus, and a fetal echocardiogram is recommended.

A recent area of controversary is related to in vitro fertilization (IVF) pregnancies and the rate of CHD. Many studies report an increased rates of CHD with IVF compared with naturally occurring pregnancies originally reported (1.1%-3.3%), and most CHDs are atrial septal defects (ASDs) and ventricular septal defects (VSDs).The incidence of CHD in pregnancies achieved with IVF without risk factors is not significantly different from baseline population rates (OR, 1.4; 95% CI, 0.9-2.1).

 The Society for Maternal-Fetal Medicine still encourages a fetal echocardiogram in IVF pregnancies regardless of intracytoplasmic sperm injection.

 The cost-effectiveness of routine screening for CHD in pregnancies following IVF has been questioned.

Fetal cardiac factors: structure, rate, and rhythm

An obvious and the most common indication for a referral for fetal echocardiogram is a suspected structural cardiac abnormality, suspected rhythm, or suspected rate abnormality. The diagnostic yield after abnormal screening on an obstetrical ultrasound is significantly better than noncardiac screening indications for fetal echocardiogram. During cardiac screening ultrasounds, the diagnostic yield of fetal CHD that comes from an abnormal 4-chamber view is 40%, the addition of the right and left outflow tracts increases the screen positivity rate to 52%, and incorporating the 3-vessel view with trachea further increases the detection of CHD.

As for rhythm abnormalities, fetal bradycardia secondary to CHB is associated with CHD in approximately 50% to 55% of cases, and fetal bradycardia may also be associated with left-sided or polysplenia phenotype forms of heterotaxy. Fetal tachycardia rarely may be associated with CHD but is still an indication for fetal echocardiography as in cases of tachyarrhythmia or bradyarrhythmia, an echocardiogram can assess cardiac structure and function, determine the underlying mechanism of tachycardia or bradycardia, and guide therapy, including in utero therapy.

 PACs have low diagnostic yield for CHD 0.3% but may precede more malignant arrhythmias.

For noncardiac major congenital anomalies, regardless of genetic etiology, we strongly recommend a fetal echocardiogram. If there is a known or suspected chromosomal abnormality, aneuploidy, deletion/duplication, single-gene mutation, or rearrangement of the fetus, a fetal echocardiogram
is indicated.

The incidence of CHD in the presence of 1 or more extracardiac malformations is estimated to be 20% to 45% and the risk varies by abnormalities present. CHD is seen in up to 70% of fetuses with genitourinary abnormalities, 30% of omphaloceles, 30% with a congenital diaphragmatic hernia, 20% with duodenal atresia, and 5% to 15% of fetuses with a central nervous system abnormality.

Not all societies agree onscreening for a single umbilical artery, we consider a fetal echocardiogram, since there is an incidence of CHD, up to 3.9%.33 Similarly, fetal venous anomalies may be associated with cardiac abnormalities, especially with agenesis of ductus venosus (DV), and this risk is slightly greater than our screening threshold.

Similarly, to the indication for fetal echocardiogram for major structural anomalies, fetal hydrops confers an indication for referral for a fetal echocardiogram. Cardiac abnormalities are the most common cause of nonimmune hydrops (15%-25% of hydrops caused from CHD or cardiac arrhythmia). Hydrops is presumed to occur because of increased venous pressure from volume overload due to valve regurgitation, pressure overload from outflow obstruction, and decreased diastolic filling time during tachycardia.

The correlation with an increased nuchal translucency (NT) with aneuploidy and CHD is well established.35 In the setting of a normal karyotype (no aneuploidy) but an increased NT, the risk of CHD is 1% to 3% if the NT is greater than the 95th percentile (3.0 mm) and 6% if the NT is greater than the 99th percentile (3.5 mm). A fetal echocardiogram should be performed if the NT is at least 3.5 mm and considered if at least 3.0 mm and less than
3.5 mm. The risk of CHD rises exponentially with increasing NT: 24% if greater than 6.0 mm and 60% if greater than 8.5 mm. A body of literature recommends interrogation of the DV to risk stratify a thickened NT. An abnormal DV with an NT greater than 3.0 mm but less than 3.5 mm increases the diagnostic yield for major CHD to 15%.

The incidence of CHD with monochorionic (mono and diamniotic) twin pregnancies is 2% to 9%.

 This includes monochorionic twins affected and unaffected by twin-twin transfusion syndrome (TTTS), which occurs in 10% of monochorionic twins. TTTS is associated with both acquired right ventricular outflow tract abnormalities and myocardial changes in the recipient twin. Independent of TTTS, monochorionic twins are at increased risk of CHD, specifically ventricular septal defects, pulmonary stenosis, and ASDs.

Family history that would trigger a fetal echocardiogram

A first-degree relative with congenital heart disease, specifically, maternal cardiac disease, is associated with an increased incidence of fetal CHD. Here we focus on nonsyndromic causes of CHD. The risk of fetal CHD when the mother has cardiac disease ranges from 3% to 7%; however, this varies by the underlying lesion of the mother and is highest for a maternal history of aortic stenosis at 13% to 18%, heterotaxy, and AV septal defects have a 10% to 14% risk, and Tetralogy of Fallot is less than 3%.

 The risk of cardiac malformation if the father is affected is 2% to 3% and similarly the recurrence risk varies with lesion type and is highest with aortic stenosis. With an affected sibling (or a previous pregnancy affected with CHD), the risk of recurrence of CHD is lower than that of an affected parent and is 2% to 6%. The risk of CHD increases if more than 1 sibling is affected. The overall risk of fetal CHD is lower with second- and third-degree relatives, with an OR of 1.39 (95% CI, 1.25-1.54) for a second-degree and OR, 1.18 (95% CI, 1.05-1.32) for a third-degree relative.

Counseling on specific genetic disorders, single gene disorders, and syndromes in a parent with any familial history should be personalized and counseling revolves around the underlying genetics and heritability of risk of the disorder/syndrome. Counseling depends on the gene’s inheritance patterns and is nuanced by incomplete penetrance, and variable expressivity of the genetics that does require personalized counseling based on etiology. Similarly, if the parent is affected by an autosomal dominant or recessive genetic disorder with increased risk for cardiac malformations, this also changes the counseling about inheritance. Personalized counseling for risk recurrence should occur with pregnancies with deletion or duplication syndromes known to be associated a significant incidence of abnormal cardiac phenotypes (eg, DiGeorge, Turner syndromes). 

1.Almli, LM, Ely DM, Ailes EC, et al. Infant mortality attributable to birth defects - United States, 2003-2017

2.Ferencz C, Rubin JD, McCarter RJ, et al. Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study. 

 1985;121(1):31-36. doi: 0.1093/oxfordjournals.aje.a113979

3.Tegnander E, Williams W, Johansen OJ, Blaas HG, Eik-Nes SH. Prenatal detection of heart defects in a non-selected population of 30,149 fetuses--detection rates and outcome. 

. 2006;27(3):252-265. doi:10.1002/uog.2710

4.Wren C, Richmond S, Donaldson L. Temporal variability in birth prevalence of cardiovascular malformations. 

. 2000;83(4):414-419. doi:10.1136/heart.83.4.414

5.Donofrio MT, Moon-Grady AJ, Hornberger LK, et al. Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association. [published correction appears in Circulation. 2014 May 27;129(21):e512]. 

. 2014;129(21):2183-2242. doi:10.1161/01.cir.0000437597.44550.5d

6.AIUM practice parameter for the performance of fetal echocardiography. 

 2020;39(1):E5-E16. doi:10.1002/jum.15188

7.Allan L, Dangel J, Fesslova V, et al. Recommendations for the practice of fetal cardiology in Europe. 

. 2004;14(1):109-114. doi:10.1017/s1047951104001234

8.Lee W, Allan L, Carvalho JS, et al. ISUOG consensus statement: what constitutes a fetal echocardiogram?. 

 2008;32(2):239-242. doi:10.1002/uog.6115

9.Rychik J, Ayres N, Cuneo B, et al. American Society of Echocardiography guidelines and standards for performance of the fetal echocardiogram. 

 2004;17(7):803-810. doi:10.1016/j.echo.2004.04.011

10.Sklansky M, Afshar Y, Anton T, DeVore GR, Platt L, Satou G. Guidance for fetal cardiac imaging in patients with degraded acoustic windows.

. 2022;. 59(6): p. 709-712. doi:10.1002/uog.24872

11.Yagel S, Weissman A, Rotstein Z, et al. Congenital heart defects: natural course and in utero development. 

 1997;96(2):550-555. doi:10.1161/01.cir.96.2.550

12.Holland BJ, Myers JA, Woods CR Jr. Prenatal diagnosis of critical congenital heart disease reduces risk of death from cardiovascular compromise prior to planned neonatal cardiac surgery: a meta-analysis.

 2015;45(6):631-638. doi:10.1002/uog.14882

13.Cawyer CR, Kuper SG, Ausbeck E, Sinkey RG, Owen J. The added value of screening fetal echocardiography after normal cardiac views on a detailed ultrasound. 

. 2019;39(12):1148-1154. doi:10.1002/pd.5557

14.Miller E, Hare JW, Cloherty JP, et al. Elevated maternal hemoglobin A1c in early pregnancy and major congenital anomalies in infants of diabetic mothers.

. 1981;304(22):1331-1334. doi:10.1056/NEJM198105283042204

15.Wu Y, Liu B, Sun Y, et al. Association of maternal prepregnancy diabetes and gestational diabetes mellitus with congenital anomalies of the newborn. 

 2020;43(12):2983-2990. doi:10.2337/dc20-0261

16.Correa A, Gilboa SM, Besser LM, et al. Diabetes mellitus and birth defects. 

2008;199(3):237.e1-237.e2379. doi: 10.1016/j.ajog.2008.06.028

17.Tinker SC, Gilboa SM, Moore CA, et al. Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997-2011. 

2020;222(2):176.e1-176.e11. doi:10.1016/j.ajog.2019.08.028

18.Buyon JP, Hiebert R, Copel J, et al. Autoimmune-associated congenital heart block: demographics, mortality, morbidity and recurrence rates obtained from a national neonatal lupus registry. 

 1998;31(7):1658-1666. doi:10.1016/s0735-1097(98)00161-2

19.Lammer EJ, Chen DT, Hoar RM, et al. Retinoic acid embryopathy. 

. 1985;313(14):837-841. doi:10.1056/NEJM198510033131401

20.Fisher SC, Van Zutphen AR, Werler MM, et al. Maternal antihypertensive medication use and congenital heart defects: updated results from the National Birth Defects Prevention Study. 

 2017;69(5):798-805. doi:10.1161/HYPERTENSIONAHA.116.08773

21.Fitton CA, Fleming M, Aucott L, Pell JP, Mackay DF, McLay JS. Congenital defects and early childhood outcomes following in-utero exposure to antihypertensive medication. 

2021;39(3):581-588. doi:10.1097/HJH.0000000000002670

22.Masarwa R, Bar-Oz B, Gorelik E, Reif S, Perlman A, Matok I. Prenatal exposure to selective serotonin reuptake inhibitors and serotonin norepinephrine reuptake inhibitors and risk for persistent pulmonary hypertension of the newborn: a systematic review, meta-analysis, and network meta-analysis.

 2019;220(1):57.e1-57.e13. doi:10.1016/j.ajog.2018.08.030

23.Matalon S, Schechtman S, Goldzweig G, Ornoy A. The teratogenic effect of carbamazepine: a meta-analysis of 1255 exposures. 

 2002;16(1):9-17. doi:10.1016/s0890-6238(01)00199-x

24.Schaefer C, Hannemann D, Meister R, et al. Vitamin K antagonists and pregnancy outcome. A multi-centre prospective study. 

 2006;95(6):949-957. doi:10.1160/TH06-02-0108

25.Ericson A, Källén BA. Nonsteroidal anti-inflammatory drugs in early pregnancy. 

 2001;15(4):371-375. doi:10.1016/s0890-6238(01)00137-x

26.Botto LD, Lynberg MC, Erickson JD. Congenital heart defects, maternal febrile illness, and multivitamin use: a population-based study. 

 2001;12(5):485-490. doi:10.1097/00001648-200109000-00004

27.Bjorkman KR, Bjorkman SH, Ferdman DJ, Sfakianaki AK, Copel JA, Bahtiyar MO. Utility of routine screening fetal echocardiogram in pregnancies conceived by in vitro fertilization. 

 2021;116(3):801-808. doi:10.1016/j.fertnstert.2021.04.035

28.Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Ghidini A, Gandhi M, McCoy J, Kuller JA; Publications Committee. Society for Maternal-Fetal Medicine Consult Series #60: management of pregnancies resulting from in vitro fertilization. 

 2022;226(3):B2-B12. doi:10.1016/j.ajog.2021.11.001

29.Chung EH, Lim SL, Havrilesky LJ, Steiner AZ, Dotters-Katz SK. Cost-effectiveness of prenatal screening methods for congenital heart defects in pregnancies conceived by in-vitro fertilization. 

 2021;57(6):979-986. doi:10.1002/uog.22048

30.Anton T, Sklansky MS, Perez M, Pretorius DH. The fetal 3-vessel views: an illustrative case-based tutorial. 

2019;38(12):3335-3347. doi:10.1002/jum.15067

31.Sklansky M, DeVore GR. Fetal cardiac screening: what are we (and our guidelines) doing wrong?. 

. 2016;35(4):679-681. doi:10.7863/ultra.15.07021

32.Copel JA, Liang RI, Demasio K, Ozeren S, Kleinman CS. The clinical significance of the irregular fetal heart rhythm. 

. 2000;182(4):813-819. doi:10.1016/s0002-9378(00)70330-9

33.Lilja M. Infants with single umbilical artery studied in a national registry. 2: Survival and malformations in infants with single umbilical artery. 

 1992;6(4):416-422. doi:10.1111/j.1365-3016.1992.tb00785.x

34.Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS. Society for Maternal-Fetal Medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis. 

2015;212(2):127-139. doi:10.1016/j.ajog.2014.12.018

35.Hyett J, Moscoso G, Papapanagiotou G, Perdu M, Nicolaides KH. Abnormalities of the heart and great arteries in chromosomally normal fetuses with increased nuchal translucency thickness at 11-13 weeks of gestation.

1996;7(4):245-250. doi:10.1046/j.1469-0705.1996.07040245.x

36.Bahtiyar MO, Dulay AT, Weeks BP, Friedman AH, Copel JA. Prevalence of congenital heart defects in monochorionic/diamniotic twin gestations: a systematic literature review. 

 2007;26(11):1491-1498. doi:10.7863/jum.2007.26.11.1491

37.Manning N, Archer N. A study to determine the incidence of structural congenital heart disease in monochorionic twins.

2006;26(11):1062-1064. doi:10.1002/pd.1556

38.Gijtenbeek M, Shirzada MR, Ten Harkel ADJ, Oepkes D, C Haak M. Congenital heart defects in monochorionic twins: a systematic review and meta-analysis. 

Articles

A review of the risks, benefits, and indications for appropriate referral of fetal echocardiography

Who needs a fetal echocardiogram?

Yalda Afshar, MD, PhD is one of Contemporary OB/GYN®’s newest 

. Afshar is an Assistant Professor and Maternal-Fetal Medicine Specialist in the Department of Obstetrics and Gynecology at the University of California, Los Angeles in Los Angeles, California.

Podcasts

Introducing Contemporary OB/GYN® Editorial Advisory Board member, Yalda Afshar, MD, PhD.

Pap Talk E10: Meet the Board: Yalda Afshar, MD, PhD

Videos

Introducing Contemporary OB/GYN® Editorial Advisory Board member Yalda Afshar, MD, PhD. 

Meet the Board: Yalda Afshar, MD, PhD

“Whenever I get worried, I always think about a quote from a mentor (Beth Karlan, MD, PhD). She always reminds us, ‘Never worry alone.’ That is so true in some of the toughest clinical and surgical cases we get into. It comes in handy during some of the darkest moments in medicine, whether it is patient care related or not. Lean on your chosen family and community; always. Then be a pillar for them,” says Yalda Afshar, MD, on ways to avoid burnout and preserve mental wellbeing.

Contemporary OB/GYN®’s Associate Editor, Lindsey Carr, sat down with board member Yalda Afshar, MD, PhD, to discuss mental health and burnout in ob/gyn.

Afshar is an Assistant Professor and Maternal-Fetal Medicine Specialist in the department of Obstetrics and Gynecology at the University of California, Los Angeles in Los Angeles, California.

Q: Dr. Afshar, I wanted to get your perspective on wellbeing and mental health in healthcare right now. Vaccines are out the pandemic is not over. You are a new mother (congratulations!) and an ob/gyn at one of the busiest hospitals in the country. How do you maintain a healthy work-life balance?

A: It really has to do with coming back to a sense of purpose. Having a purpose, I think, is inspiring. It helps attenuate burnout; it helps inspire. And then really just having a community, whatever that community may be. If it's in the workplace, if it is at home, if it's friends, if it's virtual, just some place that you can be vulnerable, really, I think helps me at least stay focused.

And a lot of my community are other scientists, other physician moms, and really, friends and family. So define your community, be at your actual family, your chosen family, and then stay in touch with them. Because I think that helps all of us while maintaining that sense of intent and purpose.

Q: With that, have you found it difficult to avoid burnout or that your foundation is pretty solid?

A: I think having a diversity of work. And it could be work in the workplace work at home. I avoid burnout by diversity in what I do. I spend most of my time you know, in research, but when I'm in clinical, mixing it up to teach, to ask questions to do research. And I think that helps avoid burnout, and then really getting inspired by areas that you feel weakened when there's no data push forward and asking questions. And that really helps me.

Q: Absolutely. So what advice would you give to new ob gyn struggling with burnout during the pandemic?

A: Remember yourself as that pre-med student. [Remember] your personal statement you wrote for medical school, and why you went into it in the first place. I do have this drawer where I keep notes from patients, and, on days that are really tough, it inspires me to look at those and read them. I spend a little extra time with the people that we get to take care of hear their stories and I think just humanizing the process. There's nothing that's inspiring about medical records and charting. But remember, that’s just a little part of it. Being with a patient, just that tangible part of medicine. Bringing it back sometimes is really the best way to avoid burnout.

Q: Is there anything else you would like to add?

A: Talking to others, you know; we are all going through it. Some days are worse, some hours are worse. Just communicate with your colleagues and families. Especially when you’re really down. There’s always help and resources available if it becomes such and you need to talk to others.

Contemporary OB/GYN®’s Associate Editor, Lindsey Carr, sat down with board member Yalda Afshar, MD, PhD, to discuss mental health and burnout in ob/gyn. 

Yalda Afshar, MD, PhD, on avoiding burnout 

Physiologic changes during pregnancy affect the body’s hormonal milieu as well as a woman’s sexual desires, responses, and practices. Typically, women’s sexual interest and coital frequency declines in the first trimester of pregnancy, shows variable patterns in the second trimester, and decreases sharply in the third trimester.

 Limited data and resources exist to guide patients on recommendations for sexual activity during pregnancy. In this review, we discuss knowledge gaps, the physiology of the female sexual response during pregnancy, types of sexual activity during pregnancy, and existing literature on anatomic and physiologic changes by trimester and postpartum. We hope that with improved knowledge, patients and providers will approach sexual health in pregnancy with less hesitation and more realistic expectations during this unique time in a woman’s life.

Many women have some level of apprehension about sexual intercourse during pregnancy, which may include fear of harming the fetus or potential for miscarriage or fetal demise, which can often precipitate avoidance of sexual activity during pregnancy.

 In 1 study, approximately 49% of women surveyed were concerned that intercourse could harm their pregnancy.

 The state of pregnancy is associated with a significant decrease in frequency of sexual activity, sexual desire, sexual satisfaction, and orgasm.

 In another study, 91% of pregnant women met the cut-off for sexual dysfunction (including desire, arousal, orgasmic, or a sexual pain disorder) in the Female Sexual Function Index (FSFI), compared to 68% of their non-gravid female counterparts.

 The FSFI is a validated questionnaire that assesses sexual functioning (ie, arousal, orgasm, satisfaction, and pain) in women.

Theoretically, sexual intercourse may stimulate contractions due to stimulation of the lower uterine segment, endogenous release of oxytocin from orgasm, direct action of prostaglandins in semen, or increased exposure to infectious agents. A few studies associating coital and orgasmic frequency with negative effects to the fetus have suffered from small sample size and incomplete control for confounders, including maternal history of preterm delivery or risk factors.

 Larger studies performed in women during all stages of pregnancy have observed no overall association between pregnancy complications (vaginal bleeding, premature rupture of membranes, preterm birth, low birth weight, or perinatal mortality) and coital frequency.

 The data, however, have not been stratified by women’s individual obstetrical history.

Evidence currently is insufficient to justify recommending against sexual intercourse during pregnancy. Overwhelmingly, studies of sexual activity in pregnancy have been unable to demonstrate increased risk of preterm labor, delivery, or infectious complications (in the absence of acquired sexually transmitted infections).

 Despite a dearth of evidence to suggest that sex is harmful during pregnancy, patients may still be apprehensive about engaging in sexual intercourse and may also be unsure of how best to broach this topic with their providers.

In not addressing sexual health in pregnancy with their patients, providers may be falling short of patients’ needs and expectations. In 1 study, most women (68%) did not remember discussing sexuality with their providers, and only 17% of them were counseled with respect to sexuality at the 6-week postpartum visit.

 Another study found that fewer than 10% of participants discussed their sexual health with their physicians, while a third study reported that only one-third of respondents had discussed issues relating to sexuality with any medical staff.

 Other authors contend that 34% of women felt uncomfortable broaching the subject and only 29% ultimately consulted with their physicians about the topic; 76% of women did not discuss sexual activity in pregnancy although they felt it should have been addressed.

Because discussion between patients and clinicians about sex during pregnancy is lacking, patients in 1 study report that the Internet is their leading source of information on the topic.

 This is an area in which clinicians who treat women during the antenatal period can improve patient care by addressing unmet needs and gaps in patient knowledge. During each prenatal visit, simply asking patients about whether they continue to be sexually active during their pregnancy may be enough to make them comfortable asking questions about their sexual health. When implemented effectively, sexual knowledge education programs have been shown to improve both sexual function and sexual attitudes among pregnant women.

 Increasing health education can be crucial in informing pregnant women of normal changes that occur at different stages of pregnancy, reducing anxiety, and potentially improving sexual function.

William Masters and Virginia Johnson, widely known for their work on human sexuality, conducted one of the few physiologic investigations of sexual response in pregnant women.

 Pregnancy markedly increases the vascularity of the pelvic viscera, leading to pelvic vasocongestion. Masters and Johnson found that a superimposed physiologic response to sexual stimulation further increases this already existing pelvic vasocongestion.

 In nulliparous women during the excitement phase, the labia minora and majora go through similar patterns of color change as in the non-pregnant state. In contrast, multiparous women can develop engorged labia majora and often localized engorgement of the lateral vaginal walls during the excitement phase.

Orgasms can affect uterine contractions differently depending on gestational age. Following orgasm during the first trimester, intermittent cramping and uterine irritability can occur. By the third trimester, patients may experience tonic spasm of the uterus during orgasm for up to 1 minute. In some women after 36 weeks’ gestation, recurrent uterine contractions following orgasm have been demonstrated for up to 30 minutes. During the resolution phase after orgasm, pelvic vasocongestion is not entirely relieved; in the second trimester, it may take 10 to 15 minutes in nulliparous patients to see resolution of vasocongestion, and up to 30 to 45 minutes in multiparous patients.

Patients reevaluated at 4 to 8 weeks postpartum were noted to have the following physiologic and anatomical changes: fully healed episiotomies and lacerations, decreased vaginal lubrication, and thinned and fattened vaginal rugae, regardless of nursing. Although the cervix was closed in most women, the uterus remained in the abdomen (as opposed to the pelvis) during the early postpartum period. By 12 weeks postpartum, there was evidence of a return to ovulation in non-nursing women, a re-establishment of normal vaginal rugal patterns, and a return of the uterus to the pelvis. Vaginal secretions, labia minora and majora responses, vaginal expansion and lengthening, and contractions during the orgasmic platform all returned to the baseline response patterns typical of non-pregnant women. Overall, normal physiology of the sexual response and orgasm is re-established. Despite objective differences between 5 and 12 weeks postpartum, patients could not necessarily distinguish significant differences in the intensity of their sexual experiences.

Overall, there are no strong data on which to base recommendations regarding when to resume vaginal intercourse postpartum.

 The aforementioned study suggests that by 12 weeks postpartum, anatomy is restored and pre-pregnancy sexual physiology is re-established. Some authors have suggested that vaginal intercourse can probably be safely resumed in women as early as 2 weeks postpartum, as long as the perineum is healed, contraception is available, and the patient is ready.

 In Europe and the United States, vaginal intercourse is resumed, on average, at 6 to 8 weeks after birth.

Pregnancy can affect the type of sexual activity in which patients feel comfortable engaging.

Coital activity appears to decline sharply by the third trimester. At 28-weeks of gestation, most couples continue with intercourse; at 32-weeks, about half to three quarters; and at 36-weeks, about one-third are still having sex.

 One report cited 40% of women engaging in intercourse within 2 weeks of the onset of labor and 17% in the 2 days before the onset of labor.

 Approximately 10% of women will abstain from coitus once pregnancy is confrmed.

Over the course of pregnancy, the use of man-on-top position declines, and woman-on-top, side-by-side, or rear entry positions are practiced more often.

 One large meta-analysis showed that up to 98.3% of pregnant women preferred genital-to-genital contact, with other types of sexual activity also being desired: 38.1% oral sex, 20.4% masturbation, and 6.6% anal sex, consistent with a non-pregnant cohort.

 Another study cited that up to 75% of European and American couples will practice mutual manual genital stimulation and up to 50% will practice oral genital stimulation during pregnancy.

 In the first and second trimesters, non-genital contact remains unchanged (94% of couples caress more than once a week).

 With respect to masturbation, up to 31% of women have reported self-stimulation during pregnancy, and up to 20% in the 3 to 6 months postpartum.

Cultural influences can largely affect forms of sexual contact in some populations. Many ethnic and religious factors may come into play which can propagate fears about sexual intercourse, thereby leading to avoidance during pregnancy.

 Authors of a Turkish study contend that rates of sexual dysfunction may be higher than average in Turkish women due to women’s attitudes about sexuality issues related to parental teaching.

 A study from Iran demonstrated that 52.9% of pregnant Iranian women believed that intercourse during pregnancy could result in abortion, and the same number considered it a cause for fetal infections.

 Fok, et al demonstrated that 93% of Chinese couples reported an overall reduction in sexual intercourse by the third trimester, with 80% attributing it to fear of possible harm to the fetus.

 Given the diversity of different cultures and backgrounds of pregnant patients in the United States, apprehension about sex in pregnancy remains prevalent in various communities. Clinicians should do their best to assuage patient fears while remaining sensitive to the background from which these fears may have arisen.

For pregnant women with female partners, other concerns specific to lesbian couples may arise. However, very limited research has been done on sexual practices of pregnant women with female partners.

 Wilton, et al found that when pregnant lesbians did not reveal their sexual identity, it was due to fear of prejudice, altered medical care practices, or lack of confidentiality.

 The rate of intimate partner violence (IPV) increases during pregnancy and IPV is associated with poor pregnancy outcomes. Unfortunately, the rate of IPV is higher in the lesbian community.

 As such, universal screening for all women is imperative.

Some of the first studies of female sexual response during pregnancy showed that women aged 21 to 43 years reported a 33% to 43% reduction in sexual desire and subjective effectiveness of sexual performance due to nausea, sleepiness, and chronic fatigue, similar to symptoms of the first trimeter.

 Sixty percent of these same women reported that fear of injury to the fetus affected the freedom of their physical response in sexual activity.

Physiologic changes during pregnancy affect the body’s hormonal milieu as well as a woman’s sexual desires, responses, and practices. In this review, we discuss knowledge gaps, the physiology of the female sexual response during pregnancy, types of sexual activity during pregnancy, and existing literature on anatomic and physiologic changes by trimester and postpartum.