Selected congenital conditions
Time-critical, surgically correctable, or high-impact conditions commonly discussed during counseling.
Congenital heart defects (CHD)
- Heart defects affect nearly 1% of births; about 1 in 4 are critical (need surgery/procedures in the first year).[9]
- Detection: anatomy scan; fetal echocardiography for higher-risk pregnancies; postnatal pulse-ox screening in many settings.
- Treatment: medication, catheter interventions, and/or surgery depending on lesion; outcomes have improved substantially with specialized care.
DDH (developmental dysplasia of the hip)
- Incidence varies by population; reported ranges can be ~1–20 per 1,000 births in some reviews.
- Screening: newborn exam + selective ultrasound for breech/family history per local policy.
- Treatment: Pavlik harness early; delayed diagnosis may require reduction and casting/surgery.
EA/TOF (esophageal atresia ± tracheo-oesophageal fistula)
- Population incidence around 2–3 per 10,000 births in recent UK reporting.[11]
- Prenatal suspicion: small/absent stomach bubble, polyhydramnios; fetal MRI can improve diagnostic accuracy.
- Postnatal signs: choking/cyanosis with feeds, inability to pass NG tube.
- Treatment: surgical repair; outcomes often good but reflux/strictures and feeding/respiratory issues can occur.
CDH (congenital diaphragmatic hernia)
- Incidence varies; many series report ~2–5 per 10,000 live births.
- Prenatal detection: ultrasound; counseling centered on pulmonary hypoplasia severity.
- Management: delivery in tertiary center, advanced ventilation strategies, delayed repair; ECMO in selected cases.
Omphalocele (exomphalos)
- National data report birth prevalence around 1 per 10,000; associated malformations/genetic disorders are common.[10]
- Prenatal diagnosis by ultrasound; genetic testing often discussed.
- Treatment: primary or staged repair based on size/stability; outcome depends strongly on associated anomalies.
Anorectal malformations / imperforate anus
- Birth prevalence around 3–4 per 10,000 live births in registry studies.
- Prenatal detection is often difficult; many cases diagnosed after birth.
- Treatment: staged vs primary repair depends on anatomy; long-term bowel/urinary outcomes vary.
Mode of delivery and later immune/allergic outcomes
- Large meta-analyses suggest cesarean delivery is associated with increased risk of asthma, allergic rhinitis, eczema, and food allergy in offspring.[12]
- Mechanisms may involve altered early microbiome exposure and perinatal antibiotics; confounding remains important.
- This is generally not a reason to avoid medically indicated cesarean, but it supports avoiding non-indicated cesarean when possible.