the first ultrasound is done in pregnancy, for patients that want genetic testing, at 18 weeks -22 weeks.
when is the first ultrasound done in pregnancy, for patients that want genetic testing?
18 weeks -22 weeks
Na
Na
there are various types of genetic testing that can be used to confirm an l1 syndrome diagnosis in a patient. after birth, genetic tests carry a low-risk of physical complications and are minimally-painful: for the patient, the process requires a small amount of blood being drawn from the arm using a needle. however, prenatal genetic testing carries significant risks for both the fetus and mother due to the need to remove genetic material from the fetus while it is still in utero. in order to conduct prenatal genetic testing, the mother and fetus must undergo either amniocentesis (the surgical puncturing of the amniotic sac, which holds the fetus in the womb) or, less frequently, chorionic villus sampling. amniocentesis provides a sample of amniotic fluid that can be used to screen for sequence variants or chromosomal variants, whereas samples obtained through chorionic villus sampling can only be used to detect major chromosomal abnormalities (such as trisomy 21), making chorionic villous sampling less relevant in the context of diagnosing l1 syndrome (which is often caused by sequence variants). amniocentesis (typically performed between 15–18 weeks of pregnancy) has a 1% risk of complications for mother and fetus, including miscarriage, while chorionic villus sampling (typically performed between 10–12 weeks of pregnancy) has a 2% risk of complications including miscarriage. mothers carrying a fetus with suspected l1 syndrome will often elect to undergo amniocentesis despite its risk, rather than waiting to pursue lower-risk genetic testing after their child is born, because prenatal diagnostic results can inform considerations to terminate the pregnancy.
l1 syndrome