Ready or not, genomic screening of fetuses is already here
NB Gold et al, Genetics in Medicine, October 17, 2023
From the paper: "Over the past decade, genomic sequencing has transformed our ability to provide diagnoses for fetuses who have abnormal imaging findings. The diagnostic yield of exome sequencing is 31% in fetuses with sonographic abnormalities who previously had a non-diagnostic karyotype and chromosomal microarray; this yield is even higher in fetuses with specific anomalies. Among apparently healthy fetuses and those with minor sonographic
differences, one study found that 2.9%, or approximately 1 in 35, harbored pathogenic or likely pathogenic genetic variants. "
The completion of indicated paternal prenatal genetic and carrier testing at a public hospital in Los Angeles, California
MT Nguyen et al, Genet in Med Open, September 2023
From the abstract: "In this primarily low-income, publicly insured, Spanish-speaking population, we identified 98 pregnancies for which partner genetic screening or testing was indicated. Only 26.5% (n=26) completed testing, which did not vary by indication, parental age, parental race, parity, or primary language. Completion of partner genetic screening or testing was significantly linked to earlier gestational age at referral for genetic counseling (19.1 versus 21.5 weeks, p=0.006). Less than one-third of pregnancies received indicated partner genetic screening or testing. Early referral to genetic counseling may improve partner testing completion rates, which could avoid invasive and unnecessary diagnostic testing in the pregnant patient."
Screening during IVF for inherited diseases can greatly reduce costs of care
L Flynn, MedicalXpress, July 2023
For prospective parents who are carriers of many inherited diseases, using in vitro fertilization along with genetic testing would significantly lower health care expenditures, according to a new study. Preimplantation genetic diagnostic testing during IVF, or PGD-IVF, is now being used to screen for single-gene defect conditions such as cystic fibrosis, sickle cell disease and Tay-Sachs disease, along with nearly 400 others.
Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores
M Siermann et al, EJHG, March 20, 2023
We found that most healthcare professionals were concerned about the prematurity of introducing PGT-P into clinical practice. They had various ethical considerations, such as concerns related to validity and utility of PGT-P, limited embryos and options, and difficulties for prospective parents regarding comprehension and informed decision-making. Positive aspects were also identified, e.g., regarding reproductive autonomy and potential health benefits. Overall, most healthcare professionals considered that clinical implementation of PGT-P is premature.