Term
| abnormalities with advanced paternal age >40-50yo - 3 |
|
Definition
| achondroplasia, apert syndrome, cruzan syndrome |
|
|
Term
| risk of trisomy if prior trisomy |
|
Definition
|
|
Term
| familial pattern autosomal dominant |
|
Definition
|
|
Term
|
Definition
| males only affected, males never pass to son |
|
|
Term
|
Definition
| duchenes muscular dystrophy, x-linked hydrocephalus, G6PD deficiency, ichynthosis, fragile X, hemophilia, color blindness |
|
|
Term
| examples of triplet repeat / anaticipation - 2 |
|
Definition
| huntingtons, myotonic dystrophy |
|
|
Term
|
Definition
| angelman, prader willi, micro deletion chromosome 15 |
|
|
Term
| which parent determines phenotype in imprinting |
|
Definition
|
|
Term
| races indicating hbg electrophoresis - 5 |
|
Definition
| AA, SE asian, mediteranian, W indian, middle eastern |
|
|
Term
| incidence and carrier rate CF |
|
Definition
|
|
Term
| gene most of CF is caused by |
|
Definition
|
|
Term
| what is the incidence of most conditions askanazi jews can get |
|
Definition
|
|
Term
| accuracy of the CF screen in different ethnic groups |
|
Definition
all 97%
asian 50%
jewish 94% |
|
|
Term
| incidence and carrier rate of SMA |
|
Definition
|
|
Term
|
Definition
| 98% SMN1, 95% exon 7 deletion, 2% de novo |
|
|
Term
| who should be tested for tay-sacs |
|
Definition
| jewish, cajun, french canadian |
|
|
Term
| what are the "ethnicity based" screening tests - 13 |
|
Definition
| tay-sacs, canavan, familial dysautonomia, neimen pick, mucolipidosis, fancomi, bloom, familian hyperinsulinemia, glycogen storage diseases, jouberts, maple suryp urine disease, usher, gaucher |
|
|
Term
| what are the "extended carrier screening" tests - 6 |
|
Definition
| fragile x, galactosemia, PKU, medium chain ACoA deficiency, smith lemeli optiz, AJ pannel |
|
|
Term
| indications for fragile x screening |
|
Definition
| family history, family history of intellectual disability or autism |
|
|
Term
| what is the detection rate of T21 in all of the screening tests |
|
Definition
5% false positive
age alone 60%
NT alone 60%
triple 70%
1T 85%
quad 81%
serum integrated 88%
initegrated 95%
sequential 95%
cfDNA 99% |
|
|
Term
| when and what CRL are screening tests done in the first trimester |
|
Definition
|
|
Term
| when are screening tests done in the second trimester |
|
Definition
|
|
Term
| what are the components of a 1T screen |
|
Definition
|
|
Term
| what are the components of an integrated screen |
|
Definition
1 - NT, PAPPA
2 - hCG, AFP, E3, inhibin A |
|
|
Term
| what are the components of a serum integrated screen |
|
Definition
1 - PAPPA
2 - hCG, AFP, E3, inhibin A |
|
|
Term
| what are the components of a sequential screen |
|
Definition
1 - NT, PAPPA, hCG
2 - AFP, E3, inhibin A |
|
|
Term
| what are the components of a triple screen |
|
Definition
|
|
Term
| what are the components of a quad screen |
|
Definition
|
|
Term
| how are the 1T serum markers interperted |
|
Definition
T21 - NT <3, hCG >2 (increased), PAPPA <5
T18 - NT <3, hCG -- (not inc), PAPPA <5%ile |
|
|
Term
| what decreases FF in cfDNA - 2 |
|
Definition
| obesity, increased gestational age |
|
|
Term
| what is the minimal FF in cfDNA and what is the rate of unsat |
|
Definition
| 4% minimum, unsat 1-8% of time |
|
|
Term
| indications for cfDNA - 6 |
|
Definition
| anyone who wants it and is counseled, >35yo, US signs of aneuploidy, history of trisomy, positive screening, known robertsonian |
|
|
Term
| what does a low fetal fraction indication in cfDNA and what should you do |
|
Definition
| 23% risk aneuploidu, 50% risk of repeat still low, diagnostic testing |
|
|
Term
| how good is cfDNA at detecting turner syndrome |
|
Definition
| 9/10 will be false positive, 11% PPV, can miss structurally abnormal X and mosaic |
|
|
Term
| sensitivity and specificity of cfDNA in trisomy and sex chromosone disorder detection |
|
Definition
| all 99% specificity, T21 99%, T18 98%, T13 91%, sex chromosome 91% |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| what is NT thickened associated with - 4 |
|
Definition
| T21, T18, cardiac defects, cystic hygroma |
|
|
Term
| if there is a cystic hygroma what is the risk of aneuploidy |
|
Definition
|
|
Term
| what are the direct causes of isolated elevated AFP - 7 |
|
Definition
| ONTD/annencephaly, gastroischesis, omphalocele, multiples, bad dating 5%, alloimmunization, cystic hygroma |
|
|
Term
| what are the indirect causes of isolated elevated AFP - 6 |
|
Definition
| think placenta - pre-e, maternal fetal hemorrhage, vaginal bleeding, accreta, chronic villitis, placenta infarct |
|
|
Term
| what complications are associated with isolated elevated AFP and the rate - 6 |
|
Definition
20-30% rate
oligo, IUGR x4, abruption x10, HTN, stillbirth x8, PTD |
|
|
Term
| when is amniocentesis done |
|
Definition
|
|
Term
| what is the complication rate for amniocentesis |
|
Definition
|
|
Term
| what are the complications of amniocentesis - 3 |
|
Definition
| ROM, bleeding 1-2%, fetal loss |
|
|
Term
|
Definition
|
|
Term
| what are the complications of CVS - 2 |
|
Definition
| fetal loss 0.25, limb reduction if <9wk |
|
|
Term
| what is the detection rate of US for fetal anomalies |
|
Definition
| 50% in low risk and 90% in high risk patients |
|
|
Term
| after 14wk what is the best way to date by US |
|
Definition
| cerebeller diameter = EGA in weeks |
|
|
Term
|
Definition
|
|
Term
| complications of oligo - 5 |
|
Definition
| NRFHT, CD (due to NRFHT), PTD, IUGR, increased morbidity |
|
|
Term
| what is cystic hygroma associated with - 5 |
|
Definition
|
|
Term
| physiology of cystic hygroma |
|
Definition
| lymphatic drainage to jugular venous system is blocked |
|
|
Term
| indications cystic hygroma is T21 vs turners |
|
Definition
in 1T T21 = turners
in 2T 75% turners |
|
|
Term
| what percent of T21 have a cystic hygroma |
|
Definition
|
|
Term
| gastroischesis vs omphalocele - cause |
|
Definition
g - lack of atrophy of the umbilical vein at 23-33d
o - midline defect, genetic syndrome |
|
|
Term
| gastroischesis vs omphalocele - herniation type |
|
Definition
|
|
Term
| gastroischesis vs omphalocele - location |
|
Definition
g - right of umbilicus
o - midline |
|
|
Term
| gastroischesis vs omphalocele - associations |
|
Definition
g - sporadic, vascular disease, smoking, thin, young
0 - 33% aneuploidy, T18, T13 |
|
|
Term
| gastroischesis vs omphalocele - delivery |
|
Definition
g - SVD
o - depends on liver |
|
|
Term
| gastroischesis vs omphalocele - complications |
|
Definition
g - sepsis, hypothermia, metabolic acidosis
o - depends on trisomy and what is herniated |
|
|
Term
|
Definition
|
|
Term
| what percent of ventriculomeagly is caused by aneuploidy / abnormal karyotype |
|
Definition
|
|
Term
| causes of ventriculomeagly - 9 |
|
Definition
| T21 CMV, toxo, syphillis, cancer, ONTD, aqueductal stenosis, dandy walker malformation, polyhydraminos 30% |
|
|
Term
| diagnosis of ventriculomeagly |
|
Definition
| atrium of left ventricle is >10mm in axial image |
|
|
Term
| management if ventriculomeagly |
|
Definition
| TORCH, amnio for karyotype |
|
|
Term
| hydrops - associated trisomies, percent association with aneuploidy |
|
Definition
|
|
Term
| AVSD/endocardial cushion defect - associated trisomies, percent association with aneuploidy |
|
Definition
|
|
Term
| holoprosencephaly - associated trisomies, percent association with aneuploidy |
|
Definition
| 40-60% - 13, 18 (13 is 50%) |
|
|
Term
| omphalocele associated trisomies, percent association with aneuploidy |
|
Definition
|
|
Term
| bladder outlet obstruction associated trisomies, percent association with aneuploidy |
|
Definition
|
|
Term
| diaphragmatic hernia - associated trisomies, percent association with aneuploidy |
|
Definition
|
|
Term
| cardiac anomalies - associated trisomies, percent association with aneuploidy |
|
Definition
|
|
Term
| ventriculomeagly - associated trisomies, percent association with aneuploidy |
|
Definition
|
|
Term
| hydrocephalus - associated trisomies, percent association with aneuploidy |
|
Definition
3-8% - 13, 18, triploidy
THINK TRISOMY 13 |
|
|
Term
| limb reduction - associated trisomies, percent association with aneuploidy |
|
Definition
|
|
Term
| club foot - associated trisomies, percent association with aneuploidy |
|
Definition
|
|
Term
| facial cleft - associated trisomies, percent association with aneuploidy |
|
Definition
1% - 13, 18
THINK TRISOMY 13 |
|
|
Term
| single umbilical artery - associated trisomies, percent association with aneuploidy |
|
Definition
|
|
Term
| jugenal atresia - associated trisomies |
|
Definition
|
|
Term
| echogenic bowel - associated trisomies and other causes (5) |
|
Definition
| 18, 21, blood, CMV, toxo, IUGR, quintero disease |
|
|
Term
| signs of quintero disease 6 |
|
Definition
| oligo, poly, no bladder, abnormal dopplers, hydrops, demise |
|
|
Term
| UTD - associated trisomies |
|
Definition
|
|
Term
| CPC - associated trisomies |
|
Definition
|
|
Term
| pyelectsis - associated trisomies |
|
Definition
|
|
Term
| what do you do if there is an isolated EIF |
|
Definition
| US for other abnormalities |
|
|
Term
| associated conditions with pylectsis - 3 |
|
Definition
| T21, UPJ obstruction, vesicoureteroreflux |
|
|
Term
| #1 cause of duodanel atresia |
|
Definition
|
|
Term
| recurrence rate duodenal atresia |
|
Definition
|
|
Term
| associations duodenal atresia - 2 |
|
Definition
|
|
Term
| US correlation to LMP for datin |
|
Definition
<8+5 - <5d
9-15+6 - <7d
16-21+6 - <10d
22-27+6 - <14d
28+ - <21d |
|
|
Term
|
Definition
| EFW <10%ile or AC <5%ile or lag 3wk |
|
|
Term
| if EFW is <10% what can exclude IUGR |
|
Definition
| AC normal excludes 90% of IUGR |
|
|
Term
| association with symmetric IUGR |
|
Definition
|
|
Term
| association with asymmetric IUGR |
|
Definition
|
|
Term
|
Definition
| GS q3-4wk, UA dopplers and AFI weekly |
|
|
Term
| fetal complications IUGR - 7 |
|
Definition
| increased MM, polycythemia, hyperbilirubenia, hypoglycemia, hypothermia, apnea, prematurity |
|
|
Term
| 2 factors that are associated with IUGR prognosis |
|
Definition
oligo indicates increased risk of death and is present in 83% of IUGR
dopplers reduce the risk of death by 29% and decrease PTD |
|
|
Term
|
Definition
| HTN, DM, renal dx, SLE, pulm dx, heart dx, hemoglobinopathies, Cal <600-900/d, poor weight gain, low BMI, abruption, placental mosacism, single umbilical artery, previa, multiples, history IUGR, aneuploidy, gastroischesis, cyclophosphamide, valproic acid, alcohol, drugs, infection (5% - CMV, toxo, TORCH), smoking |
|
|
Term
| #1 modifiable risk factor IUGR |
|
Definition
|
|
Term
|
Definition
2-3d didi
3-8d mono di
8-13d mo mo
13-15d conjined |
|
|
Term
|
Definition
| twin peak / lambda, >2mm dividng, 3-4 layer membranes, 2 genders, 2 placenta |
|
|
Term
|
Definition
| T sign, 2 membrane layers, close cord insertions, <2mm dividing |
|
|
Term
|
Definition
AA>white>asian
age
parity
IVF |
|
|
Term
| nutrition recommendations for twins |
|
Definition
1500 Ca
1000 C, D
600 kCal
400 Mg, E, DHA
15 zinc |
|
|
Term
| benefits of twin reduction |
|
Definition
increased live birth - 12% loss
dedcreased PTD to 4.5%
decreased maternal medical conditions |
|
|
Term
| % twins presenting ceph ceph |
|
Definition
|
|
Term
| requirements for breech extraction of twin - 4 |
|
Definition
| >1500g, >32wk, <20-25% discord, head flexed |
|
|
Term
| average age of delivery - twins, triplets, quads |
|
Definition
|
|
Term
| average weight - twins, triplets, quads |
|
Definition
|
|
Term
| IUGR rate - twins, triplets, quads |
|
Definition
|
|
Term
| risk of CP - twins, triplets |
|
Definition
|
|
Term
| risk of fetal death - twins, triplets |
|
Definition
|
|
Term
| complications of multiples - 14 |
|
Definition
| PTL, pre-e, anemia, CD, hyperemesis, GDM, IUGR, anemia polycythemia, PPH, anomalies, trisomy, TTTS, fetal death, CP |
|
|
Term
| risk of GDM - twins, triplets |
|
Definition
|
|
Term
| risk of polychthemia anemia syndrome in mono twins |
|
Definition
|
|
Term
| diagnosis of polycythemia anemia syndrome |
|
Definition
| MCA peak <1 in one twin and >1.5 in the other |
|
|
Term
| when does TTTS usually happen |
|
Definition
|
|
Term
|
Definition
|
|
Term
| type of vascular issue in TTTS |
|
Definition
A/A connection is beneficial
A/V connection causes TTTS |
|
|
Term
|
Definition
1 - oligo poly
2 - no bladder seen in donor
3 - abnormal dopplers
4 - hydrops
5 - death |
|
|
Term
|
Definition
| do not treat in stage 1 no benefit, in stage 2-4 do laser coagulation, septosotomy, photocoagulation, amnioreduction |
|
|
Term
|
Definition
| 70-100% at stage 3-4, reduced by 30-50% with laser treatment |
|
|
Term
| % of TTTS that progresses from stage 1 |
|
Definition
|
|
Term
| why not use tocolytics in twins |
|
Definition
| pulmonary edema, arrhythmia, MI |
|
|
Term
| why not use cerclage in twins |
|
Definition
| increased PTD (unless previous actual cervical insufficiency then its ok) |
|
|
Term
| IUGR timing delivery decreased diastolic flow |
|
Definition
| delivery no more than 37wk |
|
|
Term
| IUGR timing of delivery absent diastolic flow |
|
Definition
| give steroids now, delivery no more than 34wk |
|
|
Term
| IUGR timing of delivery reverse diastolic flow |
|
Definition
| give steroids now, delivery no more than 32wk |
|
|
Term
| RBC Ab NOT associated with alloimmunization - 4 |
|
Definition
|
|
Term
| RBC Ab associated with alloimmunization - 4 |
|
Definition
|
|
Term
| percent of alloimmunization caused by K |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| incidence of Rh D alloimmunization (historic to now) |
|
Definition
| initially 16%, 1.6% with PP Rhogam, 0.16^ with 28wk and PP rhogam |
|
|
Term
| #1 way to get Rh D alloimmunization |
|
Definition
|
|
Term
| incidence of Rh negative in - caucasian, AA, hispanic, Asian, american indian, eskimo, japanese |
|
Definition
| caucasian 15%, AA 8%, hispanic 8%, asian 4%, american indian 2%, eskimo <1%, japenese <1% |
|
|
Term
| chromosome of Rh negative |
|
Definition
|
|
Term
| incidence of RhD pseudogene by race |
|
Definition
| 69% S african, 24% african american |
|
|
Term
| risk of maternal fetal hemorrhage and alloimmunization by trimester |
|
Definition
1T - 3% hemm - 7% allo
2T - 12% - 16%
3T - 46% - 29% |
|
|
Term
| overall risk of alloimmunization per at risk pregnancy |
|
Definition
|
|
Term
| risk of alloimmunization per 1, 40, 250cc blood contamination |
|
Definition
1cc - 15%
40cc - 33%
250cc - 70% |
|
|
Term
| what is an indirect coombs test |
|
Definition
| combine Rh + with mom's blood, put it in coombs media (antihuman globulin), wash it, clumps left mean she has Ab |
|
|
Term
| what is an direct coombs test |
|
Definition
| looking for Ab on RBC surface |
|
|
Term
| which coombs test is more accurate |
|
Definition
| indirect - looks for reaction, not just Ab happening to be present on RBC surface |
|
|
Term
|
Definition
| wash the blood with acid, Hbg F will remain, Hbg A will dissolve |
|
|
Term
| how is KHB calculated to determine rhogam |
|
Definition
%fetal cells x 50 = volume
divide volume by 30 |
|
|
Term
| mom is positive for Rh neg Abs - dad is known and participating - what do you do |
|
Definition
| paternal phenotype and genotype if Rh + can do amniocentesis or if declines go to titers |
|
|
Term
| mom is positive for Rh negative Abs - dad is not participating - what do you do |
|
Definition
| do amniocentesis or if declines go to titers |
|
|
Term
| mom was known to have alloimmunization last pregnancy and is pregnant again - what do you do |
|
Definition
|
|
Term
| mom is positive for Rh negative Abs - if the patient declined amniocentesis and dad is known Rh negative how do you interpert the titers and what do you do |
|
Definition
| >1:16 - if dad is heterozygous recommend amnio of baby, if dad is homozygous just do dopplers |
|
|
Term
| once you decide to start dopplers for alloimmunization how often do you do them and how do you interpert them |
|
Definition
| start at 3x/wk and make a slope, if >2 continue dopplers weekly, if <2 continue 3x/wk, MoM >1.5 in zone A then cordocentesis for Hbg and possible transfusion |
|
|
Term
| when can MCA dopplers be performed |
|
Definition
|
|
Term
| sensitivity and specificity of dopplers vs liley vs queenan |
|
Definition
dopplers - 100% in zone A, 85% over all, 12% FP
liley - 98% in zone 2-3, 76% overall
queenan - 81% overall |
|
|
Term
| if the baby is in zone 3 on liley what is the prognosis |
|
Definition
| high chance of fetal dealth in next 7-10d |
|
|
Term
| what gestational age and how is liley method done |
|
Definition
|
|
Term
| what gestational age is queenan used |
|
Definition
|
|
Term
| what is the best area to do a fetal transfusion |
|
Definition
|
|
Term
| how fast can a transfusion correct anemia related hydrops |
|
Definition
|
|
Term
| what type of blood is used in a fetal transfusion |
|
Definition
| high HCT, O-, CMV-, irradiated, leukocyte poor |
|
|
Term
| after a fetal transfusion how fast will the Hbg drop |
|
Definition
|
|
Term
| in fetal anemia explain the deficit correlation with physiology |
|
Definition
2ng/dL - increase marrow RBC production
4 - increase venous lactate
7 - increased erythropoesis, HYDROPS
8 - increased umbilical lactate |
|
|
Term
| after a baby gets hydrops, how is the anemia graded |
|
Definition
albumin 14% mild
albumin 63% sever |
|
|
Term
| why is ambulin used to grade anemia in hydrops |
|
Definition
| extramedullary hematopoesis in the liver reduces albumin |
|
|
Term
| what is the % survival in alloimmunization with and without hydrops |
|
Definition
with 70%
with a preterm 0%
without 92% |
|
|
Term
| what are the fetal long term complications of alloimmunization - 2 |
|
Definition
| sensoruneral hearing loss, cerebral palsy |
|
|
Term
| what is the rate of loss with fetal blood transfusion |
|
Definition
|
|
Term
| how much rhogam should you use by gestational age |
|
Definition
<12wk 50ug
12-28wk 300ug
>28wk 300ug + KHB calculated addition |
|
|
Term
| what is the chance that after rhogam at 28wk the KHB will be positive |
|
Definition
|
|
Term
| how many doses of rhogam can be given, after the max if the KHB says you need more what do you do |
|
Definition
| 5 doses, give IV rhogam 600ug q8h |
|
|
Term
| what is the T1/2 and the peak time of rhogam |
|
Definition
|
|
Term
| how long does rhogam have an effect for, when should you give it again |
|
Definition
| some proven affect up to 13d, dont withold up to 28d, repeat after 12wk |
|
|
Term
| #1 cause of non-immune hydrops |
|
Definition
|
|
Term
| causes of non-immune hydrops and their percent - 8 |
|
Definition
| CV 23%, idopathic 22%, aneuploidy 22%, thoracic 13%, syndromic 11%, infection 10%, anemia 10%, TTTS 6% |
|
|
Term
| tests to order in hydrops of unknown cause - 10 |
|
Definition
maternal - indirect coombs, CBC, KHB, TORCH, US, fetal echo
amnio - karyotype, CBC, electrophoresis, metabolic pannel, cultures |
|
|
Term
| what percent of hydrops of unknown or other causes than alloimmunization will require therapy |
|
Definition
|
|
Term
|
Definition
|
|
Term
| cause of SABs broken down |
|
Definition
| 50% abnormal chromosomes - 50% trisomy / 2-% turners |
|
|
Term
| #1 single chromosomal cause of SAB |
|
Definition
|
|
Term
| examples of autosomal dominant inheritence - 7 |
|
Definition
| PCKD, NF, marfans, spherocytosis, huntingtons, achrondoplasia, OI |
|
|
Term
| what level of AFP is abnormal |
|
Definition
|
|
Term
| monitoring if isolated elevated AFP |
|
Definition
|
|
Term
|
Definition
|
|
Term
| risk of aneuploidy if absent nasal bone |
|
Definition
|
|
Term
| risk of aneuploidy if thickened nuchal fold |
|
Definition
|
|
Term
| associations with single umbilical artery |
|
Definition
| T21, #1 absence of 1 kidney, cardiac abnomalies |
|
|
Term
| association with congenital malformations in single umbilical artery % |
|
Definition
|
|
Term
| monitoring if has single umbilical artery |
|
Definition
|
|
Term
| placental abnormality associated with TTTS |
|
Definition
| villamentous cord insertion |
|
|
Term
| if after alloimmunization the baby has hydrops, what is the risk of recurrence in the next pregnancy |
|
Definition
|
|
