RESUMEN
PURPOSE: The purpose of the study was to determine the screening performance of prenatal reflex DNA screening for trisomies 21 (T21), 18 (T18), and 13 (T13) as part of a routine service at five hospitals. METHODS: Women who accepted screening had a first-trimester combined test (pregnancy-associated plasma protein A, free ß-human chorionic gonadotropin, nuchal translucency interpreted with maternal age). Those with a risk of having an affected pregnancy ≥1 in 800 were reflexed to a DNA sequencing test using stored plasma from the original blood sample, thereby avoiding the need to recall them. RESULTS: Of 22,812 women screened (including 106 with affected pregnancies), 2,480 (10.9%) were reflexed to DNA testing; 101/106 were detected (69/73 T21, 24/25 T18, and 8/8 T13), a 95% detection rate (95% confidence interval 89-98%) with four false positives (0.02%, 95% confidence interval 0.00-0.05%). The odds of being affected given a positive result were 25:1. Of the 105 screen-positive pregnancies, 91 (87%) had an invasive diagnostic test. Reflex DNA screening avoided up to 530 invasive diagnostic tests compared with using the combined test. CONCLUSION: Reflex DNA screening was successfully implemented in routine care, achieving a high detection rate, low false-positive rate, and, consequently, greater safety with fewer invasive diagnostic tests than other methods of screening.
Asunto(s)
Diagnóstico Prenatal/métodos , Trisomía/diagnóstico , Adulto , Gonadotropina Coriónica Humana de Subunidad beta , ADN/sangre , Pruebas Diagnósticas de Rutina/métodos , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Femenino , Humanos , Edad Materna , Medida de Translucencia Nucal , Embarazo , Primer Trimestre del Embarazo/sangre , Proteína Plasmática A Asociada al Embarazo , Análisis de Secuencia de ADN/métodos , Trisomía/genética , Síndrome de la Trisomía 13/diagnóstico , Síndrome de la Trisomía 13/genética , Síndrome de la Trisomía 18/diagnóstico , Síndrome de la Trisomía 18/genéticaRESUMEN
Ectopic pregnancy is a pregnancy outside the uterine cavity and is, in majority of cases, a non-viable pregnancy. There are multiple methods of managing patients with ectopic pregnancy including expectant, medical and surgical management. Live tubal ectopic pregnancies, also known as ectopic pregnancies present in the fallopian tube with fetal heartbeat still present, are most commonly treated via surgical route. This case outlines the presentation and an unusual method of management of a patient diagnosed with a live tubal ectopic pregnancy with extensive medical and surgical history.