The presence of fetal cells in maternal plasma was first identi-
fied in the 1950s but its isolation had limited success
[1]
. How-
ever, the discovery of cell-free fetal DNA in maternal plasma
in 1997 completely altered non-invasive prenatal screening
applications
[1]
. The cell-free DNA present in the plasma nor-
mally has approximately 150–180 base pairs in length and its
majority originated from apoptotic cells.
[2]
Particularly, cell-
free fetal DNA (cffDNA) has its origin in the placental
cytotrophoblastic cells, which are released into maternal
bloodstream during pregnancy
[2]
and usually accounts for
approximately 10–20% of the average of cell-free DNA in
the maternal plasma in the second trimester of gestation
[3]
.
Despite several reports describing a 1% increase in cffDNA
fraction per gestational week, some authors observed stabiliza-
tion or even decrease in cffDNA fraction along the pregnancy
[4]
. Some variables are known to affect cffDNA concentration
in maternal plasma, for example maternal weight, number of
previous gestations and gestational age
[3]
. However, it is still
impossible to predict which patients will present higher or
lower levels of cffDNA, which suggests that other factors con-
trol the amounts of fetal and maternal DNA circulating in the
plasma of each pregnant woman
[4]
. There are well docu-
mented cases of false non-invasive prenatal screening (NIPS)
results, which may derive mostly from fetoplacental mosai-
cism, maternal chromosomal abnormalities, low DNA fetal
fraction, vanishing twin and/or errors associated with the pro-
cedures
[3]
. Currently, non-invasive prenatal screening is usu-
ally performed at or after 10 weeks of gestational age until
the end of the first trimester, but can be done later in the preg-
nancy
[3]
The presence of fetal cells in maternal plasma was first identi-fied in the 1950s but its isolation had limited success[1]. How-ever, the discovery of cell-free fetal DNA in maternal plasmain 1997 completely altered non-invasive prenatal screeningapplications[1]. The cell-free DNA present in the plasma nor-mally has approximately 150–180 base pairs in length and itsmajority originated from apoptotic cells.[2]Particularly, cell-free fetal DNA (cffDNA) has its origin in the placentalcytotrophoblastic cells, which are released into maternalbloodstream during pregnancy[2]and usually accounts forapproximately 10–20% of the average of cell-free DNA inthe maternal plasma in the second trimester of gestation[3].Despite several reports describing a 1% increase in cffDNAfraction per gestational week, some authors observed stabiliza-tion or even decrease in cffDNA fraction along the pregnancy[4]. Some variables are known to affect cffDNA concentrationin maternal plasma, for example maternal weight, number ofprevious gestations and gestational age[3]. However, it is stillimpossible to predict which patients will present higher orlower levels of cffDNA, which suggests that other factors con-trol the amounts of fetal and maternal DNA circulating in theplasma of each pregnant woman[4]. There are well docu-mented cases of false non-invasive prenatal screening (NIPS)results, which may derive mostly from fetoplacental mosai-cism ความผิดปกติของโครโมโซมของมารดา ต่ำดีเอ็นเอทารกในครรภ์เศษส่วน แฝดหายสาบสูญ หรือข้อผิดพลาดที่เกี่ยวข้องกับ pro-cedures[3]. ปัจจุบัน ตรวจคัดกรองดาวน์คือ อุสุ-พันธมิตรดำเนินการใน หรือ หลัง 10 สัปดาห์อายุครรภ์จนถึงสิ้นสุดไตรมาสแรก แต่สามารถทำได้ภายหลังแผง -แนนซี่[3]
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