eleonor tiblad mmc_sweden

Prenatal diagnosis of NTD in Sweden

Swedish Birth Defects Registry 2013 Official Sta:s:cs Sweden

•  TOP due to congenital malforma:ons or chromosomal abnormali:es 1999-‐2013

•  Birth defects 1973 – 2013

•  Based on 3 registers: –  Surveillance of TOP due to fetal defects or chromosomal abnormali:es, s:llborn babies with congenital malforma:ons

–  The Medical Birth Registry (mothers and liveborn and s:llborn babies > 22 weeks)

–  Pa:ent Registry – diagnoses during the first years of life

Eleonor Tiblad, Sweden

Incidence of NTD including TOP since 1999


Abor:ons due to NTD 1999-‐2013


•  Anencephaly TOP > 90% •  NTD one of the highest rates of TOP together with chromosomal abnormali:es, bilateral renal agenesis, HLHS, HRHS


•  Decrease since 1999 sta:s:cally significant

•  The use of folic acid and mul:vitamins has increased among pregnant Swedish women


Use of folic acid in Sweden

•  400 μg daily 2 months before concep:on and during first trimester

•  High risk 5 mg daily 2 months before concep:on and during first trimester

•  Uptake 400 μg daily at least 15% but most likely higher due to the use of mul:vitamins


Regional differences in NTD

Due to differences in prenatal dx, TOPs (?) and in incidence Eleonor Tiblad, Sweden

Differences in termina:on rates


•  Regional differences in abor:on rate, partly due to unequal access to prenatal diagnosis and to differences in prenatal management and counseling.


Among children born to women born outside the Nordic countries, there is an increased incidence in NTDs, but not in spina bifida/MMC. Differences in genetics, nutrition, access to prenatal dx, differences in TOP…?


Prenatal management of MMC in Sweden

Quick inquiry, response 12 hospitals, 5 university hospitals.


Prenatal diagnosis and counseling

Referral to ter:ary center? Varies, some:mes only if con:nuing pregnancy

Whats included in work-‐up? U/S, chromosomal analysis (QF-‐PCR, some:mes karyotype). CGH array in 5 hospitals. AFP in 1.

MR rou:nely? Only in one university hospital. In the others if unclear us dx. MR only in university hospitals.

Is neuroradiologist involved in segng dx? In 3 university hospitals. In the other university hospitals if unclear dx.

Defini:on of level and size of defect? YES

How is ACII evaluated? U/S fetal medicine specialist. Neuroradiologist if MR is done.

Evalua:on of talipes? Func:on in lower extremi:es?

Talipes yes. Most ojen func:on in ankle, rarely in knee and hip joints.

Do the parents see a pediatric neurologist/neurosurgeon for counseling ajer dx?

8/12 pediatric neurologist, rehabspecialist, pediatrician. Neurosurgeon if con:nuing pregnancy.

Do the parents get contact info to pa:ent socie:es?

Some:mes

Informa:on fetal surgery for MMC? No

Con1nuing pregnancy

Prenatal check-‐ups: what is done and how ojen?

Every 4 wks. Growth, CNS, spine, talipes. ”No con:nuing pa:ent the last 8 years”

Delivery at what GA? 37-‐39

Mode of delivery Delivery at university hospital. CS

Is a pediatric neurologist/neurosurgeon present at delivery?

Neurologist/neurosurgeon present in 2 centers.


Fetal surgery for MMC

•  I Sweden, pa:ents can get funding from Försäkringskassan for medical/surgical treatment in a EU/ESS country, Switzerland or Turkey.

•  Informa:on and counseling regarding fetal surgery for MMC is rarely offered in Sweden


Postnatal outcome

•  MMCUP – quality register for MMC and hydrocephalus. Prospecive data on children born with MMC since 2007.

•  High survival rates thanks to modern care

eleonor tiblad mmc_sweden

Healthcare

incidence eleonortiblad

vitamins eleonortiblad

hrhs eleonortiblad

onrates eleonortiblad

prenatal dx

cgharrayin5 hospitals

prenatal diagnosis of

onsorchromosomal abnormali