- Edwards syndrome and Patau syndrome

 

Trsiomy 18 and Trisomy 13

Trisomy 13 (Patau syndrome)	Trisomy 18 (Edwards syndrome)
1/ 14000 ( female = male)	1/8000 ( female > male)	incidence
Severe MR		neurological
Hypo or hypertonia Holoprosencephaly (single hemisphere with single ventricle)	Hypertonia
Microcephaly		head
Sloping forehead Scalp defects	Prominent occiput
Micrognathia, dysplastic Low set ears		face
Midline Cleft lip and palate
Eye anomalies (cataract, coloboma, micropthalmia (small eye) and corneal opacities) Closely-spaced eyes, single central eye (cyclopia)	Small palpebral fissure
polydactaly	Clenched fist Rocker bottom clinodactyly,  overlapping fingers (second and fifth overlap third and fourth)	extremities
Cardiac (88%),: VSD or PPA	Cardiac (99%):  vsd , pda	Associated malformations
renal
Pre & post-natal growth retardation		growth
Some 50% of babies die in the first month and most of the rest in the first year. Survival beyond early infancy is rare and associated with profound learning disability.	Only 5% lives > 1year and associated with profound learning disability. Most babies die in the first year of life.	Life expectancy
confirmed by chromosome analysis. Many affected fetuses are detected by ultrasound scan during the second trimester of pregnancy and diagnosis can be confirmed antenatally by amniocentesis and chromosome analysis.  Can also be diagnosed on non-invasive prenatal testing (NIPT).		diagnosis
Recurrence risk is low, except when the trisomy is due to a balanced chromosome rearrangement in one of the parents.		Recurrence risk

- Prognosis and long-term outcome of IUGR.

Prognosis and long-term outcome of IUGR.

A. Mortality:

-        Mortality ↑ with decreasing gestational age when FGR is also present.

-        Mortality ↓ by 48% for each week that the fetus remains in utero before 30 weeks’ gestation.

B. Postnatal Growth Impairment:

-        usually, Term SGA have adequate catch-up growth during the first 12 months without pharmacologic intervention and in most cases catch-up growth is complete by two years.

-        However, it is having been suggested that SGA children aged 2−4 years with no evidence of catch-up growth and heights less than –2.5 SD should be referred for endocrine evaluation and eligibility for growth hormone (GH) treatment [for a minority, growth hormone therapy (started before 8 years of age and continued for >7 years) can augment growth parameters.

-        Preterm SGA infants can take 4 or more years to achieve heights in a normal range.

-        Many preterm infants show a postnatal growth deficit at the time of hospital discharge, so-called extrauterine growth restriction (EUGR), which is defined as a centile at discharge lower than the birth centile.

-        EUGR is largely due to an inadequate postnatal nutrient intake as well as postnatal morbidities, and it ↑ with decreased gestational age.

-        Premature infants with EUGR also have metabolic abnormalities similar to those observed in term SGA children and these occur irrespectively of whether they are SGA or AGA at birth.

-        SGA term infants suffer from an adverse fetal environment during the last trimester of pregnancy, whereas very preterm infants suffer from an adverse postnatal environment during the first three months, a time biologically equivalent to the third trimester of fetal life.

C. Neurological and developmental delay

-        Neurodevelopmental morbidities are seen 5 to 10 times more often in FGR infants compared with AGA infants and depend not only on the cause of FGR but also on the adverse events in the neonatal course (eg, perinatal depression or hypoglycemia).

-        Even without identified perinatal events, IUGR infants have a higher incidence of long-term neurologic or developmental handicaps.

-        Many studies reveal evidence of minimal brain dysfunction, including hyperactivity, short attention span, and learning problems.

-        Preterm FGR infants also show alterations in early neurobehavioral functions, such as attention-interaction capacity and cognitive and memory dysfunction, that persist.

-        Increased risk of cerebral palsy, a wide spectrum of learning disabilities, mental retardation, developmental delay, and neuropsychiatric disorders are seen in later years.

-        The most important predictor of subnormal performance is the absence of catch-up growth in height and/or head circumference.

-        Long-term exclusive breastfeeding could help to prevent some of the neurological sequelae of being born SGA. Overfeeding with an enriched formula could accelerate growth, but it does not seem to lead to an advantage for intellectual development and could increase metabolic and cardiovascular risks.

- Managment of IUGR

 Managment of IUGR

The initial management of a neonate with fetal growth restriction (FGR) is supportive and is focused on preventing or addressing any associated complications.

Antenatal management

1.  Bed rest: has been used but is now largely abandoned.

2.  Calcium channel blockers: used in pregnancy as tocolytics and to alter cerebral blood flow.

3.  Hormonal therapy: maternal estrogen administration may result in greater uterine blood flow allowing ↑ nutritional supply to improve fetal growth.

4.  Corticosteroid therapy: maternal glucocorticoid administration results in improved fetal doppler waveforms and better outcomes.

 

Perinatal management

A. Assessment of fetal well-being:

-        Fetal movement: All women with pregnancies with risk factors for adverse perinatal outcome should perform daily fetal movements counts and consult their physician if they notice a decrease or change in fetal movements.

-        Non stress test (NST): Frequency of regular NST to assess fetal well-being should be based on severity of IUGR.

-        Biophysical profile (BPP): In presence of decreased fetal movement, abnormal NST, suspicion or diagnosis of IUGR, a BPP or amniotic fluid assessment is warranted.

B. Delivery and resuscitation.

-        The optimal timing for delivery discussed before.

-        Outcomes are more favorable with cesarean delivery because the FGR fetus tolerates the stress of labor poorly and signs of fetal distress are common. In such cases, the already stressed, chronically hypoxic infant is exposed to the acute stress of diminished blood flow during uterine contractions.

-        Skilled resuscitation should be available because of possible complications for example perinatal depression .

A.    Prevention of heat loss.

- Staging of fetal growth restriction and optimal timing of delivery.

 

Staging of fetal growth restriction and optimal timing of delivery

 

The optimal timing of delivery with FGR is determined by the severity of

fetal compromise and the risk of stillbirth:

1.     Stage I (mild placental insufficiency): Abnormal Doppler studies including CPR ratios.

2.     Stage II (severe uteroplacental insufficiency): There is absent EDV in the UA. Delivery should be after 34 weeks with twice-a-week monitoring.

3.     Stage III (fetal deterioration, low suspicion of fetal acidosis): There is a reversal of EDV in the UA or DV PI >95th percentile. Risks of stillbirth and neurologic handicap are increased. Delivery should be around 32 weeks.

4.     Stage IV (fetal acidosis): Spontaneous fetal decelerations, reduced variability or reversal of atrial flow on DV. Imminent risk of fetal demise. Deliver immediately.

 

Also timing of delivery should be individualized and based on gestational age and fetal condition. The following principles may guide management of pregnancies complicated by IUGR:

·       Remote from term, conservative management to prolong pregnancy may be performed safely with serial antepartum surveillance as described earlier to achieve further fetal maturity.

·       The term or late preterm (>34 weeks) IUGR fetus should be delivered when there is evidence of maternal hypertension, poor interval growth (over 2- to 4-week intervals), nonreassuring antenatal testing (NST, BPP), and/or umbilical artery Doppler testing to demonstrate absence or reversal of flow.

·       When growth restriction is mild, no complicating maternal or fetal factors are present, and the umbilical artery Doppler and fetal testing are reassuring, delivery can be delayed until at least 37 weeks to minimize the risks of prematurity.

·       Each specific clinical scenario requires close consideration and an individualization of management plans.