Home Latest news Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing

Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing

by informer
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Prenatal diagnoses of congenital malformations have increased significantly due to high-resolution prenatal imaging. However, discussing these diagnoses with expectant parents remains challenging due to the varied outcomes associated with congenital malformations. Comprehensive prenatal genetic testing, including chromosomal microarray, exome sequencing, and genome sequencing, has become essential for improving prognostic accuracy.

The diagnostic yield of these tests depends on the specific malformations present. Prenatal genetic diagnosis enhances diagnostic clarity, informs pregnancy decisions, aids in neonatal care planning, and assists in reproductive planning. Although the turnaround time for comprehensive genetic testing results has improved, it still poses a challenge, especially for parents making decisions. The uncertainty of many genetic testing results necessitates appropriate genetic counseling to help parents understand the diagnosis and prognosis.

This review details available prenatal genetic testing options, discusses their impact on care using case examples, and consolidates current literature on the yield of genetic testing for diagnosing congenital malformations. Read the full article here.

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