Читать книгу Genetic Disorders and the Fetus - Группа авторов - Страница 65

Box 1.3 Elements of a stillbirth evaluation

Оглавление
Key components Details Comments
Patient history Family history Recurrent spontaneous abortionsStillbirthsMonogenic disorder(s)Congenital malformations or syndromesChromosomal disordersEthnicityConsanguinityNeurodevelopmental delayMaternal history: Previous venous thromboembolismDiabetes mellitusChronic hypertensionThrombophiliaSystemic lupus erythematosusAutoimmune diseaseEpilepsySevere anemiaHeart diseaseTobacco, alcohol, drug or medication useObstetric history: Recurrent miscarriagesPrevious child with congenital malformation, syndrome or genetic disorderPrevious child with intrauterine growth restrictionPrevious gestational hypertension or preeclampsiaPrevious gestational diabetes mellitusPrevious placental abruptionPrevious fetal demiseCurrent pregnancy:Maternal agePaternal ageGestational age at stillbirthMedical conditions complicating pregnancyCholestasisPregnancy weight gain and body mass indexComplications of multifetal gestation, such as twin–twin transfusion syndrome, twin reversed arterial perfusion syndrome, and discordant growthPlacental abruptionAbdominal traumaPreterm labor or rupture of membranesGestational age at onset of prenatal careIntrauterine growth restrictionAbnormalities seen on an ultrasound imageInfections or chorioamnionitis
Fetal autopsy If patient declines, external evaluation by a trained perinatal pathologist. Other options include photographs, X‐ray imaging, ultrasonography, magnetic resonance imaging, and sampling of tissues, such as blood or skin. Freeze tissue for future DNA study If macerated tissue, request permission for needle biopsy of liver for DNA study Provides important information in approximately 30% of cases
Placental examination Includes evaluation for signs of viral or bacterial infection. Discuss available tests with pathologist Provides additional information in 30% of cases. Infection is more common in preterm stillbirth (19 vs. 2% at term)
Fetal karyotype/microarray Amniocentesis before delivery provides the greatest yield. Umbilical cord proximal to placenta if amniocentesis declined Whole‐exome or whole‐genome sequencing/from frozen tissue or needle biopsy Abnormalities found in approximately 8% of cases
Maternal evaluation at time of demise Fetal–maternal hemorrhage screen: Kleihauer–Betke test or flow cytometry for fetal cells in maternal circulationSyphilisLupus anticoagulantAnticardiolipin antibodiesβ2 glycoprotein antibodies Routine testing for inherited thrombophilias is not recommended. Consider in cases with a personal or family history of thromboembolic disease
In selected cases Indirect Coombs If not performed previously in pregnancy
Glucose screening (oral glucose tolerance test, hemoglobin A1C) In the large‐for‐gestational‐age baby
Toxicology screen In cases of placental abruption or when drug use is suspected
Source: Modified from American College of Obstetricians and Gynecologists, Society for Maternal‐Fetal Medicine.1010
Genetic Disorders and the Fetus

Подняться наверх