To evaluate the NIPT utilization in clinical setting as documented by the providers and NOT by the commercial laboratories. This is a retrospective study of data review. The NIPT Registry was established to collect and record the data on all patients that are referred for the NIPT testing. Prenatal units & centers located near Philadelphia area were invited to participate in this study. Each participating center has obtained the IRB approval. 1584 patients had NIPT and 380 cases were excluded due to no confirmatory testing or unknown baby outcomes. 1204 cases were eligible for the primary analysis. Ethnic background: Caucasian 52.7 %, African American 15.4 %, Asian: 3.2 %, Hispanic 24.3%, Others 4.4 %. Private health insurance 40.1%, Medicaid 57.1%, other payment options: 2.8%. Indications for the NIPT testing: AMA 49.6 %, abnormal ultrasound findings 25.8 %, abnormal serum test results 13.6 %, positive history: 5.6%, other indications: 0.2%, no indications: 0.2%, multiple indications: 13.8 %. 1155 cases were tested as NIPT negative. Among them, 987 babies were delivered normal (85.5%), 4 had major chromosomal abnormalities (0.3%), 159 cases had other birth defect (14.2%). 27 cases were tested as NIPT positive. Among them, 8 babies were delivered normal (29.6%), 11 had major chromosomal abnormalities (40.7%), 8 cases had other birth defect (29.6%). 22 cases had inconclusive NIPT results. Among them, 15 babies were delivered normal (68.2%), 7 cases had other birth defect (31.8%). The sensitivity, specificity, PPV and NPV of NIPT to detect major chromosomal abnormalities were 73.3%, 98.7%, 40.7%, and 99.7% respectively. The sensitivity, specificity, PPV and NPV of NIPT to detect all birth defect were 9.8%, 99.2%, 70.3%, and 85.1% respectively. Our data showed that despite of the accuracy of NIPT in detecting major chromosomal abnormalities, there were quite a few birth defect cases that were not screened by this test alone. Other prenatal screening options should be considered in addition to NIPT for prenatal care.

Area under the ROC curve for the prediction of adverse pregnancy outcomes for whole placenta vs placental bed vascularization

To establish the NIPT Registry to evaluate NIPT utilization & patients' results as documented by the providers and NOT by the commercial laboratories & to examine NIPT in clinical setting. The NIPT registry records NIPT data from 9 medical centers. IRB approval was obtained. Four commercial laboratories are offering NIPT and the publications on NIPT performance were led and published by these same NIPT laboratories. We enrolled all patients who had NIPT and analyzed the data according to the following heading: patient's age, gestational age (GA) at testing, indications for NIPT, maternal serum screen results, ultrasound exam & finding in relation to time of testing, time interval from the blood test to reporting results to the provider, accuracy & confirmation of NIPT results. More than 2000 NIPT tests were performed by all the participating centers. A total of 566 patients were eligible for analysis. Ethnic origin of the patients was as follows: Caucasian 26.1%, African American 25.6%, Asian 12.4%, Hispanic 34.6%, & Other 5.7 %. The gestational age at time of testing was: 10-13 (28%), 14-17 (15%), 18-22 (40%) & 23- 32 (16%) weeks. The one or more indications for NIPT included: Maternal age 42%, Abnormal serum screening 25%, Abnormal ultrasound finding 35%, Family history 11 % Routine 2 %. About 33% had abnormal ultrasound findings before NIPT and 2% had abnormal ultrasound found after NIPT. Inconclusive results at 3.5% of the patients and repeated testing achieved conclusive results at 75% of the tests. Interval from the blood test to receiving the results averaged at 9.5 days. Six patients were correctly diagnosed and confirmed by NIPT & CVS/Amniocentesis, respectively, as T18 (2) or T21 (4). Two normal cases were diagnosed as trisomy 18 by NIPT. One was diagnosed as XXY. The use of NIPT is rapidly expanded into clinical practice; The NIPT Registry will continue to provide an important, independent evaluation of the accuracy of NIPT results in clinical setting.

ObjectiveTo evaluate the accuracy and utilization of noninvasive prenatal diagnosis test (NIPDT) using fetal DNA in maternal blood and to establish a multicenter registry to accomplish this aim.Study DesignNIPDT by using fetal DNA in maternal blood to diagnose chromosomal aneuploidy is currently available and its utilization is rapidly expanding. We collected data from 6 centers and tabulated it by patient age, gestational age (GA), indication, maternal serum screen, ultrasound finding. IRB approval was obtained. We have also established the NIPDT Registry to accomplish the above goal.ResultsA total of 175 patients underwent testing over the past 3 months. Tests were performed at 11-13 weeks (12%), at 14-17 weeks (36%), at 18-22 (40%) weeks, and at 23-25 (12%) weeks' gestation. The following indications were used to perform the test: Maternal age (above 35) 54% , Abnormal maternal serum screening 41%, Abnormal ultrasound finding 27% Positive family or personal history 4%. At maternal age of less than 35 about 77%, 15% and 8% were tested because of abnormal ultrasound finding, abnormal serum screen or both abnormal and others, respectively. Inconclusive results were reported to be between 3.5%-5% possible causes: testing at early GA or fetuses with hydrops. Repeat testing at a later GA yielded conclusive results except for one patient. At this time, as most tested patients are undelivered accuracy is determined based on CVS/amniocentesis results with 2% incorrect diagnosis by NIPDT, for example trisomy 18 was reported by NIPDT and was normal by FISH and Karyotype.ConclusionThe clinical utilization of NIPDT is rapidly expanding with significant clinical and economical implications. Larger sample size and independent evaluation of the accuracy of all results in clinical setting are clearly required and will be studied by the NIPDT Registry. Current standard of prenatal diagnosis care should continue along with critical assessment of the NIPDT results. ObjectiveTo evaluate the accuracy and utilization of noninvasive prenatal diagnosis test (NIPDT) using fetal DNA in maternal blood and to establish a multicenter registry to accomplish this aim. To evaluate the accuracy and utilization of noninvasive prenatal diagnosis test (NIPDT) using fetal DNA in maternal blood and to establish a multicenter registry to accomplish this aim. Study DesignNIPDT by using fetal DNA in maternal blood to diagnose chromosomal aneuploidy is currently available and its utilization is rapidly expanding. We collected data from 6 centers and tabulated it by patient age, gestational age (GA), indication, maternal serum screen, ultrasound finding. IRB approval was obtained. We have also established the NIPDT Registry to accomplish the above goal. NIPDT by using fetal DNA in maternal blood to diagnose chromosomal aneuploidy is currently available and its utilization is rapidly expanding. We collected data from 6 centers and tabulated it by patient age, gestational age (GA), indication, maternal serum screen, ultrasound finding. IRB approval was obtained. We have also established the NIPDT Registry to accomplish the above goal. ResultsA total of 175 patients underwent testing over the past 3 months. Tests were performed at 11-13 weeks (12%), at 14-17 weeks (36%), at 18-22 (40%) weeks, and at 23-25 (12%) weeks' gestation. The following indications were used to perform the test: Maternal age (above 35) 54% , Abnormal maternal serum screening 41%, Abnormal ultrasound finding 27% Positive family or personal history 4%. At maternal age of less than 35 about 77%, 15% and 8% were tested because of abnormal ultrasound finding, abnormal serum screen or both abnormal and others, respectively. Inconclusive results were reported to be between 3.5%-5% possible causes: testing at early GA or fetuses with hydrops. Repeat testing at a later GA yielded conclusive results except for one patient. At this time, as most tested patients are undelivered accuracy is determined based on CVS/amniocentesis results with 2% incorrect diagnosis by NIPDT, for example trisomy 18 was reported by NIPDT and was normal by FISH and Karyotype. A total of 175 patients underwent testing over the past 3 months. Tests were performed at 11-13 weeks (12%), at 14-17 weeks (36%), at 18-22 (40%) weeks, and at 23-25 (12%) weeks' gestation. The following indications were used to perform the test: Maternal age (above 35) 54% , Abnormal maternal serum screening 41%, Abnormal ultrasound finding 27% Positive family or personal history 4%. At maternal age of less than 35 about 77%, 15% and 8% were tested because of abnormal ultrasound finding, abnormal serum screen or both abnormal and others, respectively. Inconclusive results were reported to be between 3.5%-5% possible causes: testing at early GA or fetuses with hydrops. Repeat testing at a later GA yielded conclusive results except for one patient. At this time, as most tested patients are undelivered accuracy is determined based on CVS/amniocentesis results with 2% incorrect diagnosis by NIPDT, for example trisomy 18 was reported by NIPDT and was normal by FISH and Karyotype. ConclusionThe clinical utilization of NIPDT is rapidly expanding with significant clinical and economical implications. Larger sample size and independent evaluation of the accuracy of all results in clinical setting are clearly required and will be studied by the NIPDT Registry. Current standard of prenatal diagnosis care should continue along with critical assessment of the NIPDT results. The clinical utilization of NIPDT is rapidly expanding with significant clinical and economical implications. Larger sample size and independent evaluation of the accuracy of all results in clinical setting are clearly required and will be studied by the NIPDT Registry. Current standard of prenatal diagnosis care should continue along with critical assessment of the NIPDT results.