Early Clinical Outcomes in Infants with Prenatally Diagnosed Perimembranous and Muscular Ventricular Septal Defects (VSDs).

Isolated ventricular septal defect (VSD) is often associated with good clinical outcomes. However, infants prenatally diagnosed with VSD are often recommended for delivery at tertiary care centers. The aim of our study was to determine the odds of neonatal intensive care unit (NICU) admission in infants with persistent isolated VSD and complicated VSD, where an infant is affected by VSD and other genetic/structural abnormalities. We performed a retrospective cohort study, with data collected from a single academic institution from June 2018 to March 2023. Individuals with prenatally diagnosed VSD, in the absence of any other heart defects, were included in this study. The primary outcome was admission to the NICU. Multivariable logistic regression was used to assess associations. The association between persistence of VSD and NICU admission was adjusted for maternal age, fetal genetic abnormalities, fetal extracardiac abnormalities, and gestational age at the time of delivery. The association between complicated VSD and NICU admission was adjusted for maternal age and gestational age of the infant at the time of delivery. The odds of NICU admission were similar in infants with persistent isolated VSD and VSD that closed in utero (adjusted OR 1.31, 95% CI 0.30-5.61). However, infants with complicated VSD were at increased risk of NICU admission (adjusted OR 15.52, 95% CI 2.90-82.92). The risk of NICU admission was only increased in infants whose VSD was complicated by another genetic/major structural abnormalities. Therefore, women whose infants are prenatally diagnosed with VSD alone may not require delivery at tertiary care centers.

The impact of early diagnosis of fetal single-ventricle cardiac defects on reproductive choices.

BACKGROUND: Congenital heart defects are the most common fetal anomaly. Congenital heart defects with single-ventricle cardiac defects have high mortality rates, and in pregnancies diagnosed with this condition, patients are often offered termination of pregnancy as an option. OBJECTIVE: This study aimed to investigate the relationship between gestational age at diagnosis and reproductive choices in fetuses diagnosed with single-ventricle cardiac defects. STUDY DESIGN: This was a retrospective single-center cohort study in which 158 patients with a fetal diagnosis of single-ventricle cardiac defects were reviewed. Cases were categorized as isolated or complex. Complex cases included fetuses with single-ventricle cardiac defects in addition to other fetal extracardiac anomalies or chromosomal abnormalities. RESULTS: A total of 158 patients were diagnosed with single-ventricle cardiac defects during the study period. Of those patients, 37 (23.4%) underwent termination of pregnancy, 113 (71.5%) delivered, and 8 (5.1%) had an intrauterine fetal demise. Gestational age at diagnosis and race were significant predictors of the termination decision. The median gestational age at diagnosis was earlier in the termination of pregnancy group (20.4 vs 23.6 weeks; P<.001). Pregnancies complicated by single-ventricle cardiac defects diagnosed in early gestation (11 0/7 to 14 5/7 weeks of gestation) were more likely to be terminated than pregnancies complicated by single-ventricle cardiac defects diagnosed in middle gestation (15 0/7 to 27 5/7 weeks of gestation) and late gestation (≥28 weeks of gestation) (54.2% vs 23.2% and 2.9%; P<.001). Earlier gestational age at diagnosis was correlated with earlier gestational age at termination (r=0.92; P<.001). CONCLUSION: Termination of pregnancy was more common when the single-ventricle cardiac defect was diagnosed earlier in pregnancy. This could be explained by the fact that early diagnoses allow parents to make deliberate and informed decisions.

The value of detailed first-trimester ultrasound in the era of noninvasive prenatal testing.

BACKGROUND: In 2020, the American College of Obstetricians and Gynecologists recommended noninvasive prenatal testing be offered to all patients. However, current societal guidelines in the United States do not universally recommend a detailed first-trimester ultrasound. OBJECTIVE: This study aimed to determine the additional findings identified through first-trimester ultrasound that would have otherwise been missed if noninvasive prenatal testing was used alone as a first-trimester screening method. STUDY DESIGN: This was a retrospective cohort study involving 2158 pregnant patients and 2216 fetuses that were seen at a single medical center between January 1, 2020, and December 31, 2022. All those included underwent both noninvasive prenatal testing and detailed first-trimester ultrasound between 11.0 and 13.6 weeks of gestation. Noninvasive prenatal testing results were categorized as low risk or high risk, and first-trimester ultrasound results were categorized as normal or abnormal. Abnormal first-trimester ultrasounds were further classified as first-trimester screening markers (increased nuchal translucency, absent nasal bone, tricuspid regurgitation, and ductus venosus reverse a-wave) or structural defects (the cranium, neck, heart, thorax, abdominal wall, stomach, kidneys, bladder, spine, and extremities). Descriptive statistics were used to report our findings. RESULTS: Of 2216 fetuses, 65 (3.0%) had a high-risk noninvasive prenatal testing result, whereas 2151 (97.0%) had a low-risk noninvasive prenatal testing result. Of those with a low-risk noninvasive prenatal testing result, 2035 (94.6%) had a normal first-trimester ultrasound, whereas 116 (5.4%) had at least 1 abnormal finding on first-trimester ultrasound. The most common screening marker detected within the low-risk noninvasive prenatal testing group was absent nasal bone (52/2151 [2.4%]), followed by reversed a-wave of the ductus venosus (30/2151 [1.4%]). The most common structural defect in this group was cardiac abnormality (15/2151 [0.7%]). Overall, 181 fetuses were identified as having "abnormal screening" through either a high-risk noninvasive prenatal testing result (n=65) or through a low-risk noninvasive prenatal testing result but abnormal first-trimester ultrasound (n=116). In summary, the incorporation of first-trimester ultrasound screening identified 116 additional fetuses (5.4%) that required further follow-up and surveillance than noninvasive prenatal testing alone would have identified. CONCLUSION: Detailed first-trimester ultrasound identified more fetuses with a potential abnormality than noninvasive prenatal testing alone. Therefore, first-trimester ultrasound remains a valuable screening method that should be used in combination with noninvasive prenatal testing.

Topography of the Heart: Mapping the Fetal Heart Through SlowflowHD.

SlowflowHD is a Doppler Ultrasound modality that is typically geared toward visualization of small-size vessels and low velocity blood flow. In this commentary, we emphasize the importance of implementing the use of SlowflowHD as an adjunct to traditional Doppler modalities in the echocardiography screening in both the first and second trimester. This modality carries many characteristics that allow it to overcome the limitations of our current ultrasound modalities and facilitate mapping of the entirety of the fetal heart. The clinical implications are significant in regard to earlier acquisition of diagnostic information to guide decision-making and patient counseling.