EP06.35: Metabolic disorders in prenatal diagnosis

The goals were to answer a few questions: can metabolic disorders be diagnosed prenatally? Are there any metabolic diseases diagnosed with NIPT? Do we have specific ultrasound signs? Which affects the fetus more frequently? What is counselling and management in these cases? Inherited metabolic diseases are due by the enzymatic defects that occur as a result of unique or multiple genetic mutations. Protein, carbohydrate, metals or fatty acids metabolism may be affected. This study is a systematic review. Searches were performed of MEDLINE, PubMed and the Cochrane Database to identify articles and randomised controlled trials related to the study objective. Metabolic syndromes are extremely numerous, 1450 divided into 24 categories, with multisystemic impairment. In general, the diagnosis is postnatal. If there is family history the diagnosis is established early in pregnancy through CVS or amniocentesis. Genetic testing is extremely important by NGS, WES, WGS. Cannot be diagnosed by standard karyotype or micro array. In some cases there are also specific biochemical tests or NIPT. The vast majority have no specific prenatal ultrasound signs, however, there are sometimes signs that attract attention. Amino acid synthesis defects can lead to microcephaly, brain malformations or neural tube defects. Women with phenylketonuria may have spontaneous abortions, IUGR, fetal cardiac and brain malformations. Cystic fibrosis is characterised by meconium ileus, liver disease and cardiac malformations. Smith-Lemli-Opitz syndrome is an autosomal recessive disorder comprised of recognizable facial abnormalities and multiple congenital anomalies. Some inherited metabolic diseases can cause significant complications during pregnancy, affecting the mother and/or the fetus. Obstetricians should be aware of the potential complications and carefully consider how to best manage these conditions. For metabolic diseases in which the risk of complications is known, optimal treatment can lead to a good fetal and maternal outcome.