Prenatal Diagnosis - 9thunder

Pregnancy Diagnosis Obstetrics and Gynecology Hospital of FudanUniversi ty Xing Chen, MD. Email: [email protected] For a woman with regular menstrual

cycles, a history of one or more missed periods following a time of sexual activity without effective contraception strongly suggests early pregnancy Associated Symptoms Fatigue Nausea/vomiting

Breast tenderness physical examination softening and enlargement of the pregnant uterus congestion and a bluish discoloration of the vagina (Chadwick sign) softening of the cervix (Hegar sign)

Increased pigmentation of the skin appearance of circumlinear striae on the abdominal wall (striae gravidarum ) Palpation of fetal parts appreciation of fetal movement and fetal heart tone s Pregnancy test

human chorionic gonadotropin (hCG): /-subunitsubunit produced in the syncytiotrophoblast Urine approximately 4 weeks following the first day of the last men strual period All urine pregnancy tests are best performed on early-morning urine spe cimens, which contain the highest concentration of hCG

Serum specific and sensitive by following serial quantitative hCG levels and comparing them to th e expected rise derived from normative data for proven normal intrau terine pregnancies Ultrasound examination Abdominal ultrasound allowing visualization

of a normal pregnancy gestational sac 5 to 6 weeks after the beginning of the last normal menstrual period (corresponding to -subunithCG co ncentrations of 5000 to 6000 mIU/mL) Transvaginal ultrasound often detects pregna ncy at 3 to 4 weeks of gestation (correspondi ng to -subunithCG concentrations of 1000 to 2000 mIU/mL)

Detection of fetal heart activity fetal heart tones Acoustic fetoscope beyond 18 to 20 week s of gestational age Electronic Doppler devices

approximately 12 weeks of gestation Abnormal Pregnancy Spontaneous abortion Ectopic pregnancy Trophoblastic disease

Prenatal Diagnosis Prenatal diagnosis is the science of identifying structural or functional abnormalities-subunitbirth defects-subunitin the fetus

Etiology of Birth Defects Malformation Deformation Disruption Other Malformation an intrinsic abnormality "programmed" in d

evelopment, regardless of whether a preci se genetic etiology is known spina bifida Deformation caused when a genetically normal fetus de velops abnormally because of mechanical forces imposed by the uterine environment

normal limb that develops contractures be cause of prolonged oligohydramnios Disruption which is a more severe change in form or f unction that occurs when genetically norm al tissue is modified as the result of a spec ific insult

an amnionic band causing a cephalocele o r limb-subunitreduction abnormality Other Syndrome: trisomy 18 Sequence: oligohydramnios leading to pul monary hypoplasia Association: VATER (association of verteb

ral defects, anal atresia, tracheoesophage al fistula with esophageal atresia, and radi al dysplasia) Techniques Non-subunitinvasive Minimally invasive Invasive

Non-subunitinvasive techniques Ultrasound Magnetic Resonance Imaging (MRI) Minimally Invasive Techniques Cell free fetal DNA (cffDNA) Pre-subunitimplantation genetic diagnosis (PGD)

Invasive Techniques Chorionic villus sampling (CVS) Amniocentesis Percutaneous umbilical blood sampling (c ordocentesis) Key Guidelines

All women contemplating any form of prenatal diagnosis should be adequately counselled about the risks, benefit s and limitations of any test, and provided with non-subunitdirect ional written information Screening test for Down's syndrome and 20 week scan for structural anomalies Women at risk of having a baby with congenital heart dis ease should be offered an extra fetal echocardiogram at

2124 weeks The middle cerebral artery Doppler peak systolic velocity can be used as a non-subunitinvasive method for diagnosing of fetal anaemia Key Guidelines Serial ultrasound measurements are of undoubt ed use in monitoring fetal growth but all formulae

currently used to estimate fetal weight are inhere ntly flawed and may give errors up to 14% MRI is a useful adjunct to ultrasound in prenatal diagnosis especially in the diagnosis of intra-subunitcra nial, intra-subunitthoracic and gastrointestinal anomalie s Key Guidelines

Cell free fetal DNA testing has become widely es tablished for the management of Rhesus diseas e and certain sex linked genetic disorders. With f urther research it is poised to offer much greater benefits in the field of minimally invasive prenata l diagnosis Pre-subunitimplantation genetic diagnosis provides the opportunity for parents to avoid the distress of in

vasive testing and possible termination. Howeve r, the ethical and legal debate is set to continue f or many years Key Guidelines CVS should not be performed before 10 weeks o f gestation as it has been associated with limb re duction abnormalities. It appears to be safer if it i

s performed transabdominally rather than transc ervically Amniocentesis should not be performed at less t han 15 weeks of gestation as before this it is ass ociated with greater risk of pregnancy loss and p ossible talipes in the fetus Key Guidelines

In experienced hands CVS and amniocent esis both carry a similar procedure related risk of miscarriage of 0.51% Percutaneous umbilical blood sampling is now limited to potentially lifesaving in utero transfusion procedures for severe fetal an aemia

Neural-subunitTube Defects (NTDs) anencephaly, spina bifida, cephalocele, an d other rare spinal fusion (schisis) abnorm alities had higher levels of alpha-subunitfetoprotein (AF P) in maternal serum and amnionic fluid Maternal Serum AFP Screening

influence factors: maternal weight, gestational age, diabetes, multifetal gestation Evaluation of Maternal Serum AFP Elevation genetic counseling diagnostic test Specialized Sonography

amniocentesis Specialized Sonography Transverse and sagittal images of the spin e are increasingly used to characterize the size and location of spinal defects Amniocentesis

amnionic fluid AFP level assay for acetylcholinesterase Down Syndrome trisomy 18, 21 First/second trimester: Sonography and m aternal serum markers

Second-subunitTrimester Screening At 15 to 20 weeks Triple test: MSAFP (maternal serum alpha-subunitfetoprotein ) hCG or free-subunithCG uE3 (unconjugated estriol ) Quadruple (Quad) test:

+ inh (dimeric inhibin alpha) First-subunitTrimester Screening between 11 and 14 weeks maternal serum analyte screening: hCG (or free -subunithCG) hCG) pregnancy-subunitassociated plasma protein A (PAPP-subunitA)

sonographic: nuchal translucency (NT) combination of both Be aware gestational age affects the accuracy less sensitive in younger women

Be aware strong association between increasing nuc hal translucency and fetal cardiac anomali es nuchal translucency measurement is 3.5 mm or greater with a normal fetal karyotyp e, then targeted sonographic examination, fetal echocardiography, or both should be

considered Sonographic Screening for Aneuploidy Major Structural Defects "Soft Signs" Diagnostic Techniques Second-subunitTrimester Amniocentesis

between 15 and 20 weeks Early Amniocentesis between 11 and 14 weeks Chorionic Villus Sampling (CVS) at 10 to 13 weeks

Fetal Blood Sampling percutaneous umbilical blood sampling (PUBS) or cordo centesis Fetal Tissue Biopsy Preimplantation Genetic Diagnosis Fetal Cells in the Maternal Circulation

Fetal Therapy -to improve the intrauterine environment blood product transfusion administration of medication transplacental ly or via the fetal circulation laser or radiofrequency ablation of vascula r anastomoses

amnioreduction shunt placement fetal surgery Reference Obstetrics and Gynecology, 6th edition Williams Obstetrics, 23rd edition Prenatal diagnosis: Types and techniques.

Early Human Development. 2012 (88) :38

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