[Prenatal diagnosis and genetic analysis of 13 fetuses with 16p11.2 microdeletion/microduplication].

Researchers studied 13 babies during pregnancy who had genetic changes called 16p11.2 deletions or duplications. These were found in about 1 in 400 pregnancies tested. Some babies had heart problems or spine issues on ultrasound. About half of these genetic changes were new, while half came from a healthy parent.

After genetic counseling, some families chose to continue the pregnancy while others didn't. Of the babies born, most were developing normally by age 2, though one had heart problems and one had seizures.

This retrospective study analyzed 13 fetuses with 16p11.2 microdeletion/microduplication identified through chromosomal microarray analysis among 4,985 prenatal diagnoses (0.26% prevalence). Eight cases had microdeletions (0.174-0.84 Mb) and five had microduplications (0.59-0.89 Mb). Main ultrasound findings included cardiovascular abnormalities, vertebral developmental issues, and nuchal translucency thickening. Parental testing revealed five de novo cases and seven inherited from phenotypically normal parents.

Following counseling, eight couples terminated pregnancies, one had selective reduction, and four continued pregnancies. Among liveborn infants (16-26 months follow-up), one had congenital heart disease, one had epilepsy, and two showed normal development.

Supports use of chromosomal microarray analysis for prenatal diagnosis of 16p11.2 variants. Emphasizes need for comprehensive genetic counseling including parental testing and long-term follow-up. Variable outcomes suggest individualized approach to pregnancy management decisions.

Small sample size (n=13), short follow-up period (16-26 months), retrospective design, and lack of standardized outcome measures limit generalizability. The study doesn't provide long-term developmental outcomes or autism-specific assessments.

To explore the ultrasound finding, pregnancy outcome, and follow-up of fetuses with 16p11.2 microdeletion/microduplication to provide a basis for genetic counseling. Thirteen fetuses with 16p11.2 microdeletion/microduplication detected by chromosomal microarray analysis (CMA) at the Genetic Testing Center of Women's and Children's Hospital Affiliated to Qingdao University between January 2021 and March 2024 were selected as study subjects. Prenatal ultrasound finding, results of genetic testing and family verification, pregnancy outcome, and postnatal conditions were retrospectively analyzed. Data were analyzed using descriptive statistical analysis.

This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: QFELL-YJ-2024-159). Among 4 985 fetuses undergoing prenatal diagnosis, 13 (0.26%) were detected with 16p11.2 microdeletion/microduplication. Among these, 8 were microdeletions with a size ranging from 0.174 Mb to 0.84 Mb, and 5 were microduplications with a size ranging from 0.59 Mb to 0.89 Mb. The main prenatal ultrasound findings included cardiovascular abnormalities, vertebral developmental abnormalities, and nuchal translucency thickening.

Parental tracing was performed in 12 of the 13 fetuses, with five cases verified to have a de novo origin, and seven originated from a phenotypically normal parent. Following genetic counseling, eight couples had opted induced labor, one couple with twin pregnancy had selected reduction of the abnormal fetus, whilst four couples had chosen to continue with the pregnancy. At follow-up, the liveborn infants were aged between 16 and 26 months, with one diagnosed with congenital heart disease, one with infantile epilepsy, and two showing no abnormality in growth and development. CMA testing holds a significant value for the prenatal diagnosis of 16p11.2 microdeletion/microduplication.

For fetuses with positive results, it is necessary to consult and conduct long-term follow-up in conjunction with prenatal ultrasound and parental tracing results in order to provide appropriate guidance for pregnancy decision and selection of reproductive methods.