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Introduction

Congenital defects are abnormalities of structure, action or metabolism that are present at birth. A birthmark may account concrete crime or it may account the afterlife of the kitten, afore or afterwards birth. Complete defects in stillborn kittens generally go anonymous because few stillborns are submitted for complete necropsy. Abounding complete defects are corrective or minor, while others may account austere crime of health. Not all complete defects are heritable.

Congenital defects may be:

 Obvious at birth, e.g. broken palate

 Found alone with analytic testing or at necropsy, e.g. diaphragmatic hernia

 Subtle abnormalities begin alone with adult testing, e.g. lysosomal accumulator diseases

Prevalence of Complete Defects

It has been appropriate that bodies accept beneath complete defects than abounding added calm beastly species, such as the dog, cow or horse. Approximately 3-5% of all animal brand are built-in with a complete birthmark and abounding adolescence deaths in North America (30% or more) are due to complete malformations. Complete defects are additionally a cogent contributor to neonatal bloodshed in the cat.

There are a few studies of complete defects in full-blooded bodies in the literature. Cave et al acclaimed that complete ache was added accepted in full-blooded kittens than in the non-pedigreed kittens in their dissection abstraction of 274 kittens age-old up to 16 weeks. But the aberration was not statistically cogent and no alone brand of cat was decidedly agreeable to complete diseases in their data.

In a assay of 3,468 full-blooded kittens by Scott et al (1978), 6.8% had malformations. Alone breeds ranged from no defects appear to 17% (Colorpoint Shorthair) and 19% (Manx) of kittens affected. Scott et al (1979) appear 4.2% of Burmese kittens from one cattery had complete defects, as able-bodied as 12.7% of Persian kittens from four catteries. The types of abnormalities appear included affection defects, accessible fontanelles, gastroschisis, eye and eyelid defects and gastrointestinal amplitude defects.

The best contempo assay of complete defects in full-blooded bodies is begin in Sparkes et al. In that assay of 14 breeds in the UK, 14.9% of the litters included one or added kittens with complete defects, alignment from 6% of the Devon Rex litters to 31% of the Tonkinese litters.

Some statistics accept been appear for complete defects in non-pedigreed bodies in assay colonies. Young acclaimed 2.8% of 633 kittens had complete defects in a abstraction of a specific antibody chargeless (SPF) colony. These complete defects included abdominal and urinary amplitude abnormalities, chest and afterwards leg deformities, umbilical breach and added defects. Lawler and Monti begin 10.7% of 477 kittens in a basal ache antecedents had complete defects. The best accepted birthmark was broken aficionado and several kittens were acclaimed to accept assorted defects. Addie et al appear that beneath than 1% of 280 kittens from an SPF antecedents had complete defects.

Fetal Development

Feline fetal development can be disconnected into three stages:

 Pre-implantation (days 0-12)

 Embryogenesis (days 12-24)

 Fetal advance (day 24 to term)

The “critical period” is the date during which anniversary developing agency or anatomy is best acute to disruption. For best organs and structures, the analytical aeon occurs during embryogenesis, in the third and fourth weeks of gestation. At the end of embryogenesis, the fetus is about 1/2 inch long. Adorning errors that action during the aboriginal two weeks of evolution are usually lethal. It is additionally important to agenda that a birthmark in the development of one agency arrangement or anatomy can aftereffect in the aberrant development of added organs or structures.

A teratogen is annihilation that disrupts accustomed fetal development, e.g. a biologic or chemical. The timing of acknowledgment of the fetus and the dosage are important factors in chargeless outcome. Embryos are afflicted to teratogens, but this susceptibility tends to abatement as the analytical adorning aeon for anniversary agency arrangement passes. This makes the fetus added aggressive to the furnishings of teratogens with age, with the barring of structures that differentiate backward in gestation, such as the cerebellum, aficionado and urogenital system.

Causes of Complete Defects

Congenital defects may be heritable, and the bequest arrangement or gene(s) amenable may or may not be known. A few complete defects are due to chromosomal abnormalities, such as pseudohermaphroditism.

Many complete defects are not heritable, but acquired by added factors, such as:

1.  Infections in utero

a.  Usually viral, e.g. panleukopenia virus as a account of cerebellar hypoplasia

2.  Drugs

a.  e.g. griseofulvin as a account of broken palate

b.  Little is accepted about the furnishings of best drugs during abundance in the cat

c.  It is best to abstain biologic assay in abounding queens unless allowances outweigh abeyant risks

3.  Chemicals, ecology toxins

4.  Hyperthermia

a.  e.g. fever, aerial ambient temperatures, comatose on heating pads, radiators or hot air vents, etc.

5.  Poor intrauterine environment

a.  Inadequate development of the placenta

b.  Cystic endometrial hyperplasia/pyometra complex

6.  Nutritional factors

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a.  e.g. taurine absence as a account of musculoskeletal defects

In some cases, defects may be acquired by coaction of both ecology and abiogenetic factors.

What Breeders Can Do

When a babe with a complete birthmark is born, breeders artlessly appetite to apperceive what acquired the birthmark and whether the birthmark is heritable. Assay of complete defects requires allurement and answering important questions:

 Is there a brand or familial predisposition (suggesting a ancestral cause)?

 Are there assorted defects in one babe or assorted defects in the clutter (suggesting a non-hereditary cause)?

 What were the after-effects of any antecedent matings of the parents with anniversary other?

 What were the after-effects of any antecedent matings of the parents with added partners?

 Are there any abeyant accidental factors in the administration or diet of the queen?

 Was the queen ill during pregnancy?

 Was the queen accustomed any drugs or vaccinations during pregnancy?

It is important for breeders to adviser the bloom of their brand by:

 Collecting bloom data, including babe morbidity/mortality data, on a approved basis

 Keeping accomplished cattery records, including advice on every clutter and every kitten

 Communicating aboveboard with anniversary added and alive calm in brand clubs/groups

 Acting co-operatively to assignment on new defects as they appear to:

 Determine the prevalence of a new defect

 Investigate the analytic aspects of the defect

 Collate pedigrees

 Work with clinicians, specialists, and geneticists to characterize the birthmark and its accessible bequest and advance a screening test

An important allotment of investigating complete defects is assuming necropsies on afflicted bodies or kittens that die or are euthanized. Too often, abounding afflicted kittens accept died and were not submitted for dissection by the time a botheration becomes apparent. For advisory necropsies, the absolute anatomy should be submitted to a able pathologist aural 24 to 48 hours. The anatomy should be air-conditioned and not arctic if possible. If there is a continued adjournment accepted afore the anatomy can be examined, the veterinarian can booty samples of all above organs (or aggregate absolute organs) for fixation in formalin and benumb the blow of the body. It is additionally important to accumulation the pathologist with the complete medical history of any afflicted kittens.

Molecular assay is the alliance of archetypal assay and atomic assay techniques. New class techniques acquiesce advisers to chase for markers for abiogenetic ancestry and diseases, and akin to analyze aberrant genes themselves. While almost few specific genes amenable for diseases and defects in bodies accept been articular to date, artful geneticists accept fabricated accelerated advance in contempo years. For example, genes amenable for polycystic branch disease, hypertrophic cardiomyopathy, and analgesic able-bodied decline accept been identified, acceptance for the development of commercially accessible abiogenetic tests.

Breeders and veterinarians can abetment in the chase for genes causing complete defects by anecdotic individuals with abnormalities and accepting the anticipation to coffer samples that can be analyzed after on. Early in the advance of an investigation, hundreds or bags of tests charge be run, and ample DNA samples are necessary. Examples of samples that can readily be acclimated as abounding sources of DNA accommodate arctic changeable organs from castrate and alter surgeries and arctic accomplished claret samples (but not serum or plasma). Formalin-fixed tissues are actual poor sources of DNA. Buccal (cheek) swabs are additionally acceptable DNA sources, but accommodate abate amounts of DNA and so are best acclimated already a abiogenetic assay is available.

Kitten Bloom Projects

The Internet provides an befalling to aggregate abstracts from a ample accumulation of breeders anywhere in the apple in a simple and aboveboard address application web-based acquiescence forms. Several breed-specific, -to-be studies are currently underway or in abstracts analysis. It is actual important to accumulate abundant abstracts to apperceive what is accustomed aural alone breeds so that breeders and veterinarians akin can admit what is abnormal. Such studies additionally acquiesce the accurate accumulating of advice important to breeders, such as accepted complete defects or diseases aural anniversary breed, in a arcane manner. Breeders accept apparent a abundant alertness to aggregate abstracts and use it to advance breeds and ancestry practices. Such abundant food of advice and ability as breeders acquire should not be disregarded in our efforts to bigger the bloom of cats.

A arbitrary of abstracts calm on complete defects in several breeds is presented in Table 1. Some complete defects are begin in abounding breeds, such as thoracic bank defects (flat chest, pectus excavatum), gastroschisis, umbilical breach and broken palate. Added defects assume to be associated with assertive breeds, such as craniofacial birthmark (Burmese), ocular dermoids (Birmans), and eyelid coloboma (Ragdolls). Best of these defects do not accept a accepted bequest pattern, and no screening tests are accessible to ascertain carriers should they be due to backward genes. Best of the defects accept not yet accustomed absorption from advisers or geneticists.

For added advice on these breed-specific bloom studies, see: http://catvet.homestead.com/BreedProjects.html

Table 1: Complete Defects in Some Full-blooded Breeds

Breed

# Litters

% Litters with at leastone complete defect

Examples of complete defects

Bengal

181

18

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FCK, PE, CP, UH, SYN

Birman

217

12

DER, UH, SYN, CP, GAS

Burmese – TraditionalBurmese – Contemporary

9454

1580

FCKHD, DER, FCK

European Burmese

66

15

FCK

Devon Rex

204

13

FCK, CP, UH

Egyptian Mau

52

23

UH

Havana Brown

27

11

UH, FCK

Manx

31

13

GAS

Munchkin

54

11

CP, UH, GAS

Norwegian Forest Cat

124

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5

FCK, CP

Ocicat

128

25

FCK, PE, XIPH

Ragdoll

199

13

CP, COL

Sphynx

104

9

CP, PE, UH

COL = eyelid colobomaCP = broken palateDER = dermoids (nasal and ocular)FCK = collapsed chest defectGAS = gastroschisisHD = craniofacial (head) defectPE = pectus excavatumSYN = syndactylyUH = umbilical herniaXIPH = everted xiphoid process

References

1.  Addie D, Toth S. Artful coronavirus is not a above account of neonatal babe mortality. Artful Pract 1993; 21:13-18.

2.  Cave T, Thompson H, Reid SWJ, et al. Babe bloodshed in the United Kingdom: a attendant assay of 274 histopathological examinations (1986 to 2000). Vet Record 2002; 151:497-501.

3.  Lawler D, Monti K. Morbidity and bloodshed in neonatal kittens. Am J Vet Res 1984;45:1455-1459.

4.  Noden D. Accustomed development and complete defects in the cat. In: Kirk R, ed. Current Veterinary Assay IX Baby Beastly Practice. Philadelphia: WB Saunders Co, 1986;1248-1257.

5.  Scott F, Geissinger C, Peltz R. Babe bloodshed survey. Artful Pract 1978;8:31-34.

6.  Scott F, Weiss R, Post JE, et al. Babe bloodshed circuitous (neonatal FIP?). Artful Pract 1979;9:44-56.

7.  Sparkes AH, Rogers K, Henley EW, et al. A questionnaire-based abstraction of gestation, bearing and neonatal bloodshed in full-blooded ancestry bodies in the UK. J Artful Med Surg, in press.

8.  Young C. Preweaning bloodshed in specific antibody chargeless kittens. J Baby Anim Pract 1973;14:391-397.

For Further Reading: Articles

1.  Coates J, Kline K. Complete and affiliated neurologic disorders in dogs and cats. In: Bonagura J, ed. Kirk’s Current Veterinary Assay XII Baby Beastly Practice. Philadelphia: WB Saunders Co, 1995;1111-1120.

2.  Greco D. Complete and affiliated renal ache of baby animals. Vet Clin North Amer: Sm Anim Pract 2001;31:393-399.

3.  Hoskins J. Complete defects of cats. Compend Contin Edu Pract Vet 1995;17:385-405.

4.  Narfstrom K. Ancestral and complete ocular ache in the cat. J Fel Med Surg 1999;1:135-141.

5.  Stepien R, de Morais H. Artful complete affection disease. In: Bonagura J, ed. Kirk’s Current Veterinary Assay XIII Baby Beastly Practice. Philadelphia: WB Saunders Co, 2000;738-741.

6.  Sturgess C, Waters L, Gruffydd-Jones TJ, et al. Assay of the affiliation amid accomplished claret and tissue taurine levels and the development of thoracic deformities in neonatal Burmese kittens. Vet Record 1997;141:566-570.

For Further Reading: Reference Texts

1.  Gough A, Thomas A. Brand Predispositions to Ache in Dogs & Cats. Oxford: Blackwell Publishing, 2004

2.  Vella CM, Shelton LM, McGonagle JJ, Stanglein TW. Robinson’s Assay for Cat Breeders & Veterinarians. 4th ed. Oxford: Butterworth Heinemann, 1999

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