Prenatal multidisciplinary counseling for fetal congenital anomalies: A narrative review

Abstract

Introduction: Prenatal multidisciplinary counseling for fetuses with congenital anomalies involves a collaborative approach, integrating expertise from various medical fields.

Aims and approach: This comprehensive strategy aims to provide expectant parents with accurate information about the diagnosis, potential outcomes, and available interventions. Genetic counselors, obstetricians, neonatologists, and other specialists work together to address medical, psychological, and ethical aspects. The prenatal multidisciplinary counseling approach emphasizes open communication, fostering a supportive environment for the couple to express their concerns and ask questions. In the case of prenatally detected fetal congenital anomalies, several different scenarios can be delineated: (1) detection of surgically correctable congenital anomalies, (2) identification of genetic disease or fetal anomalies likely to result in disabilities, (3) discovery of severe and lethal congenital anomalies, and (4) encountering fetal anomalies that are not well-defined, leading to an unclear scenario. The process of counseling includes discussing the possibility of pregnancy termination, treatment options, potential challenges, and emotional support, enabling expectant parents to make informed decisions aligned with their values and preferences. Additionally, the counseling process extends beyond the initial diagnosis, providing ongoing support as the pregnancy progresses and helping families to prepare for the difficulties they may face after the birth of the child with congenital anomalies. This collaborative effort not only focuses on the medical aspects but also considers the emotional and ethical dimensions of decision-making.

Conclusion: The multidisciplinary approach enhances the quality of care and empower parents, facilitating a more informed and compassionate journey throughout the prenatal period.

Keywords: congenital anomalies; prenatal diagnosis; prenatal multidisciplinary counseling.

FIGURE 1

Prenatal counseling flowchart.

FIGURE 2

Imperforate hymen with hydrometrocolpos and fetal ascites. (a–c) Prenatal two‐dimensional (2D) (a, b) and 3D (c) ultrasound imaging. (d) Imperforate hymen in the newborn, later treated surgically.

FIGURE 3

Prenatal diagnosis of a large abdominal mass identified as a lymphangioma, treated surgically. (a, b) Prenatal ultrasound showing an abdominal mass, suspected to be a lymphangioma. (c) Abdominal distension in the newborn at birth. (d, e) Postnatal abdominal magnetic resonance imaging confirms the prenatal suspicion of lymphangioma. (f–h) Laparotomy reveals an extensive intestinal lymphangioma, which is drained and removed with the creation of intestinal stomas.

FIGURE 4

Prenatal diagnosis of lobar holoprosoencephaly. The baby was born alive but developed intractable epilepsy and died in a few days. (a–l) Fetal magnetic resonance imaging (MRI) (20 weeks of gestational age) (a–d) and postnatal cerebral MRI (e–l) showed absent anterior third of the corpus callosum, absent pellucid septum, unseparated frontal lobes, diffuse irregular and abnormal cortical profile, biparietal and fronto‐occipital cerebral diameter reduction.

FIGURE 5

Prenatal unclear scenario in a case with a postnatal diagnosis of Arboleda–Tham syndrome, a recently described genetic disease due to KAT6A pathogenic variant and associated with intellectual disability. (a–c) Prenatal ultrasound (31 weeks of gestation) showed an abnormal cranial shape with dolichocephaly (a), abnormal cardiac axis (b), and liver calcifications (c). (d) The patient at 1 year of life showing microcephaly and severe global delay. (e, f) Cerebral magnetic resonance image (10 months of age) showing supratentorial ventriculomegaly, reduced white matter, thin corpus callosum, and tonsillar descent (Arnold–Chiari type 1 malformation).

FIGURE 6

(a, b) Prenatal ultrasound scan in fetus with multiple malformations at 16 gestational weeks. (c, d) Therapeutic interruption due to posterior occipital encephalocele and lower limb defect from amniotic band syndrome.

FIGURE 7

Prenatal diagnosis of a large diaphragmatic hernia and turricephaly in Apert syndrome. Prenatal counseling revealed the couple's desire to provide all possible care for the newborn, but due to the ineffectiveness of the treatments, palliative care was adopted soon after (withdrawing is equal to withholding). Afterward, the parents wrote a book about their son's story, 9 Months Lived Intensely. (a) Prenatal scan showing stomach, bowel, and liver in the thorax. (b, c) Two‐dimensional (2D) and 3D prenatal scan showing dysmorphic features including macrocrania and frontal bossing. (d) The newborn after birth. (e) Chest X‐ray showing herniated bowel, stomach, and liver. (f, g) Syndactyly of the fingers and toes.