Genetics, not the intrauterine environment, control abnormal development – sciencedaily

Yale researchers have shown that developmental abnormalities, including those that lead to pregnancy loss and autism, are controlled by the genetics of the fetus and placenta – not by the mother’s intrauterine environment.

The findings are reported in the April 28 online edition of the journal. Placenta.

One in 33 children is diagnosed with a birth defect each year in the United States, according to the Centers for Disease Control and Prevention (CDC). This translates to a baby born every 4 ½ minutes – or 120,000 per year.

“Mothers often feel responsible for these faults. But it’s not their fault, ”said lead author Dr. Harvey Kliman, a researcher in the Department of Obstetrics, Gynecology and Reproduction at the Yale School of Medicine. “This new research indicates that the genetics of these children are the most important cause.”

For the study, Kliman’s team looked at placental data for nearly 50 sets of identical and non-identical twins. The researchers found that abnormal cell growths called trophoblast inclusions (TIs), which are markers for many developmental anomalies, occurred with a similar frequency in identical twins, while non-identical twins had markedly high TI counts. different.

Identical twins share the same DNA sequence; non-identical twins share half of their DNA sequence. The researchers found that identical twins often had the same number of TIs or were in one of the cases with the same number of TIs. Non-identical twins had TI accounts that were, on average, four or five different.

“This work suggests that developmental abnormalities are much more likely to be due to the genetics of the child, and not the fault of the mother,” Kliman said.

Lead author Julia Katz, a former Yale undergraduate student who is now a medical student at Hofstra University, inspired the study.

Katz and her brother, Jesse, who was born underweight with several birth defects, are non-identical twins. “I had a lot of guilt, growing up, about why my twin had certain conditions that I didn’t have,” Katz said. “I think mothers tend to blame themselves as well.”

Katz approached Kliman after a lecture at Yale and asked him what gives birth to undersized babies. The conversation led to a discussion of developmental abnormalities and Katz’s desire to research information about herself and her twin’s genetics – including looking at her own placental blades from birth.

It also led Kliman, Katz, and co-author Parker Holzer, a graduate student in Yale’s Department of Statistics and Data Science, to lead the new study.

“Julia’s need to resolve this burden is what propelled our study,” Kliman said. “Hopefully this discovery will help many other people as well.”

Katz added, “This experience has shown me that if you have a question, ask it. And if you don’t get an answer, try to answer it yourself.”

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Material provided by Yale University. Original written by Jim Shelton. Note: Content can be changed for style and length.

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