2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Effectiveness of expanded prenatal carrier screening and prenatal ultrasound in identifying congenital disorders among consanguineous couples

Effectiveness of expanded prenatal carrier screening and prenatal ultrasound in identifying congenital disorders among consanguineous couples

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The study aimed to evaluate the effectiveness of expanded carrier screening and prenatal ultrasound in identifying disorders among consanguineous (related by blood) couples seen by a genetic counselor. A total of 57 patients reported consanguinity with their partners out of 15,834 total patients seen in the same period. Only 6 of the 57 patients were seen before conception, while 16 were seen in their first pregnancy.<br /><br />Of the 43 patients who were seen after 2010, 15 chose expanded carrier screening and 11 only had carrier blood tests. The rest had a combination of carrier blood tests, hemoglobin analysis, and screening for conditions like cystic fibrosis and spinal muscular atrophy.<br /><br />The study found that if a couple had a known 25% recurrence risk, prenatal diagnosis procedures like chorionic villi sampling or amniocentesis detected the condition in 70% of cases. However, if the couple had a prior child or fetus with a suspected autosomal recessive disorder, expanded carrier screening with ultrasound together also detected the condition in 70% of cases.<br /><br />Other methods, such as prenatal ultrasound alone, detected the condition in 48% of cases, while expanded carrier screening alone detected it in 26% of cases. Hemoglobinopathy screening alone detected it in 4% of cases.<br /><br />The study concluded that it is ideal for primary care providers to determine if patients report consanguinity and refer them for genetic counseling before conception. Obstetric providers should also refer patients for genetic counseling, consider expanded carrier screening, and recommend fetal anatomy ultrasound. The study also highlighted that consanguinity is relatively common in Northern California.<br /><br />Overall, the study provides insights into the potential effectiveness of expanded carrier screening and prenatal ultrasound in identifying disorders among consanguineous couples, highlighting the importance of early identification and counseling for at-risk couples.

Asset Subtitle

Presenting Author - Laila Rhee, MS; Co-Author - Krishna R. Singh, MD, FACMG, FACOG; Co-Author - Elyse Love, MS;

Meta Tag

Congenital Anomaly

Counseling

Genetic Testing

Malformation

Prenatal Diagnosis

Co-Author Krishna R. Singh, MD, FACMG, FACOG

Co-Author Elyse Love, MS

Presenting Author Laila Rhee, MS

Keywords

expanded carrier screening

prenatal ultrasound

consanguineous couples

genetic counselor

recurrence risk

chorionic villi sampling

amniocentesis

autosomal recessive disorder

hemoglobinopathy screening

Northern California